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Publisher:Parramatta, N.S.W. : Australian School Libarary Association, NSW, 1998.
Date:1998.
Call Numbers:TQ067684
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ArticlesPeer ReviewedFull TextAuthor / Creator:Geng, Linda N ; Kohler, Jennefer N ; Levonian, Peter ; Bernstein, Jonathan A ; Ford, James M ; Ahuja, Neera ; Witteles, Ronald ; Hom, Jason ; Wheeler, MatthewPublisher:England: Oxford University PressJournal title:Postgraduate medical journal, 2019-10, Vol.95 (1128), p.569-572View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Baldridge, Dustin ; Wangler, Michael F. ; Bowman, Angela N. ; Yamamoto, Shinya ; Schedl, Tim ; Pak, Stephen C. ; Postlethwait, John H. ; Shin, Jimann ; Solnica-Krezel, Lilianna ; Bellen, Hugo J. ; Westerfield, MontePublisher:England: BioMed Central LtdJournal title:Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.206-206, Article 206View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Yang, Gui Xiang ; Lu, Henry ; Sharma, Mehul ; Worley, Kim C ; Del Bel, Kate L ; Kozak, Frederick K ; Biggs, Catherine M ; Lalani, Seema R ; Henkelman, Erika ; Lehman, Anna ; Adams, David R ; Alvarez, Raquel L ; Alvey, Justin ; Bale, Jim ; Bamshad, Michael ; Bayrak-Toydemir, Pinar ; Bejerano, Gill ; Bellen, Hugo J ; Bennett, Jimmy ; Berry, Gerard T ; Bivona, Stephanie ; Blue, Elizabeth ; Bonner, Devon ; Brokamp, Elly ; Carrasquillo, Olveen ; Chang, TaChen Peter ; Coggins, Matthew ; Craigen, William J ; D’Souza, Precilla ; Dai, Hongzheng ; Davis, Joie ; Dayal, Jyoti G ; Duncan, Laura ; Falk, Marni ; Fieg, Elizabeth L ; Gahl, William A ; Don Hadley, Sihoun Hahn ; Hassey, Kelly ; High, Frances ; Hisama, Fuki M ; Holm, Ingrid A ; Hom, Jason ; Huang, Alden ; Introne, Wendy ; Kilich, Gonench ; Kobren, Shilpa N ; Kohane, Isaac S ; Kohler, Jennefer N ; Korrick, Susan ; Krakow, Deborah ; Lewis, Richard A ; Loo, Sandra K ; Loscalzo, Joseph ; Mahoney, Rachel ; Malicdan, MayChristine V ; Manolio, Teri A ; Marth, Gabor ; Martínez-Agosto, Julian A ; McCauley, Jacob ; McGee, Elisabeth ; Mefford, Heather ; Mirzaa, Ghayda ; Mulvihill, John ; Nakano-Okuno, Mariko ; Orengo, James P ; Pace, Laura ; Pak, Stephen ; Papp, Jeanette C ; PhillipsIII, John A ; Quinlan, Aaron ; Raper, Anna ; Robertson, Amy K ; Sacco, Ralph ; Saporta, Mario ; Schaechter, Judy ; Schedl, Timothy ; Schoch, Kelly ; Scott, Daryl A ; Shin, Jimann ; Silverman, Edwin K ; Sisco, Kathy ; Smith, Kevin S ; Solnica-Krezel, Lilianna ; Solomon, Ben ; Spillmann, Rebecca C ; Sullivan, Jennifer A ; Sybert, Virginia ; Tabor, Holly K ; Tan, Amelia LM ; Ungar, Rachel A ; Velinder, Matt ; Vogel, Tiphanie P ; Wambach, Jennifer ; Wan, Jijun ; Hubshman, Monika Weisz ; Wener, Mark ; Wolfe, Lynne A ; Yamamoto, Shinya ; Yang, John ; Zuchner, StephanPublisher:England: BMJ Publishing Group LtdJournal title:Journal of medical genetics, 2023-11, Vol.60 (11), p.1092-1104View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Schoch, Kelly ; Esteves, Cecilia ; Bican, Anna ; Spillmann, Rebecca ; Cope, Heidi ; McConkie-Rosell, Allyn ; Walley, Nicole ; Fernandez, Liliana ; Kohler, Jennefer N. ; Bonner, Devon ; Reuter, Chloe ; Stong, Nicholas ; Mulvihill, John J. ; Novacic, Donna ; Wolfe, Lynne ; Abdelbaki, Ayat ; Toro, Camilo ; Tifft, Cyndi ; Malicdan, May ; Gahl, William ; Liu, Pengfei ; Newman, John ; Goldstein, David B. ; Hom, Jason ; Sampson, Jacinda ; Wheeler, Matthew T. ; Cogan, Joy ; Bernstein, Jonathan A. ; Adams, David R. ; McCray, Alexa T. ; Shashi, VandanaPublisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2021-02, Vol.23 (2), p.259-271View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Lu, Jinfeng ; Toro, Camilo ; Adams, David R. ; Acosta, Maria T. ; Adam, Margaret ; Alvarez, Raquel L. ; Alvey, Justin ; Amendola, Laura ; Andrews, Ashley ; Ashley, Euan A. ; Bacino, Carlos A. ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bellen, Hugo J. ; Bennett, Jimmy ; Berg-Rood, Beverly ; Bernstein, Jonathan A. ; Berry, Gerard T. ; Bican, Anna ; Bivona, Stephanie ; Blue, Elizabeth ; Bohnsack, John ; Bonner, Devon ; Botto, Lorenzo ; Boyd, Brenna ; Briere, Lauren C. ; Brown, Gabrielle ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Butte, Manish J. ; Byers, Peter ; Byrd, William E. ; Carey, John ; Carrasquillo, Olveen ; Cassini, Thomas ; Chang, Ta Chen Peter ; Chanprasert, Sirisak ; Chao, Hsiao-Tuan ; Chinn, Ivan ; Clark, Gary D. ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Cole, F. Sessions ; Colley, Heather A. ; Cope, Heidi ; Corona, Rosario ; Craigen, William J. ; Crouse, Andrew B. ; Cunningham, Michael ; D’Souza, Precilla ; Dai, Hongzheng ; Dasari, Surendra ; Davis, Joie ; Dayal, Jyoti G. ; Dell’Angelica, Esteban C. ; Dickson, Patricia ; Dipple, Katrina ; Doherty, Daniel ; Dorrani, Naghmeh ; Doss, Argenia L. ; Douine, Emilie D. ; Earl, Dawn ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Falk, Marni ; Fieg, Elizabeth L. ; Fisher, Paul G. ; Fogel, Brent L. ; Forghani, Irman ; Gahl, William A. ; Glass, Ian ; Gochuico, Bernadette ; Goddard, Page C. ; Godfrey, Rena A. ; Golden-Grant, Katie ; Grajewski, Alana ; Hadley, Don ; Hahn, Sihoun ; Halley, Meghan C. ; Hamid, Rizwan ; Hassey, Kelly ; Hayes, Nichole ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Holm, Ingrid A. ; Hom, Jason ; Horike-Pyne, MarthaPublisher:England: BioMed Central LtdJournal title:BMC genomics, 2024-01, Vol.25 (1), p.115-22, Article 115View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Rosenfeld, Lindsay E. ; LeBlanc, Kimberly ; Nagy, Anna ; Ego, Braeden K. ; Acosta, Maria T. ; Adam, Margaret ; Adams, David R. ; Alvarez, Raquel L. ; Alvey, Justin ; Amendola, Laura ; Andrews, Ashley ; Ashley, Euan A. ; Bacino, Carlos A. ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bellen, Hugo J. ; Bennett, Jimmy ; Berg-Rood, Beverly ; Bernstein, Jonathan A. ; Berry, Gerard T. ; Bican, Anna ; Bivona, Stephanie ; Blue, Elizabeth ; Bohnsack, John ; Bonner, Devon ; Botto, Lorenzo ; Boyd, Brenna ; Briere, Lauren C. ; Brokamp, Elly ; Brown, Gabrielle ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Butte, Manish J. ; Byers, Peter ; Byrd, William E. ; Carey, John ; Carrasquillo, Olveen ; Cassini, Thomas ; Chang, Ta Chen Peter ; Chanprasert, Sirisak ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Cole, F. Sessions ; Colley, Heather A. ; Cooper, Cynthia M. ; Cope, Heidi ; Corona, Rosario ; Craigen, William J. ; Crouse, Andrew B. ; Cunningham, Michael ; D’Souza, Precilla ; Dai, Hongzheng ; Dasari, Surendra ; Davis, Joie ; Dayal, Jyoti G. ; Dell’Angelica, Esteban C. ; Dipple, Katrina ; Doherty, Daniel ; Dorrani, Naghmeh ; Doss, Argenia L. ; Douine, Emilie D. ; Duncan, Laura ; Earl, Dawn ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Falk, Marni ; Fieg, Elizabeth L. ; Fisher, Paul G. ; Fogel, Brent L. ; Forghani, Irman ; Gahl, William A. ; Glass, Ian ; Gochuico, Bernadette ; Goddard, Page C. ; Godfrey, Rena A. ; Golden-Grant, Katie ; Grajewski, Alana ; Hadley, Don ; Hahn, Sihoun ; Halley, Meghan C. ; Hamid, Rizwan ; Hassey, Kelly ; Hayes, Nichole ; High, Frances ; Hing, Anne ; Hisama, Fuki M.Publisher:England: BioMed Central LtdJournal title:Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.73-10, Article 73View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Miller, Ilana M. ; Yashar, Beverly M. ; Acosta, Maria T. ; Adam, Margaret ; Adams, David R. ; Agrawal, Pankaj B. ; Alvey, Justin ; Amendola, Laura ; Andrews, Ashley ; Ashley, Euan A. ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Bademci, Guney ; Baker, Eva ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bellen, Hugo J. ; Bennett, Jimmy ; Berg-Rood, Beverly ; Bernstein, Jonathan A. ; Berry, Gerard T. ; Bican, Anna ; Bivona, Stephanie ; Blue, Elizabeth ; Bohnsack, John ; Bonnenmann, Carsten ; Bonner, Devon ; Botto, Lorenzo ; Boyd, Brenna ; Briere, Lauren C. ; Brokamp, Elly ; Brown, Gabrielle ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Butte, Manish J. ; Byers, Peter ; Byrd, William E. ; Carey, John ; Carrasquillo, Olveen ; Chang, Ta Chen Peter ; Chanprasert, Sirisak ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Cole, F. Sessions ; Colley, Heather A. ; Cooper, Cynthia M. ; Cope, Heidi ; Craigen, William J. ; Crouse, Andrew B. ; Cunningham, Michael ; D’Souza, Precilla ; Dai, Hongzheng ; Dasari, Surendra ; Davis, Joie ; Dayal, Jyoti G. ; Dell’Angelica, Esteban C. ; Dipple, Katrina ; Doherty, Daniel ; Dorrani, Naghmeh ; Doss, Argenia L. ; Douine, Emilie D. ; Draper, David D. ; Duncan, Laura ; Earl, Dawn ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Falk, Marni ; Fernandez, Liliana ; Ferreira, Carlos ; Fieg, Elizabeth L. ; Findley, Laurie C. ; Fisher, Paul G. ; Fogel, Brent L. ; Forghani, Irman ; Gahl, William A. ; Glass, Ian ; Gochuico, Bernadette ; Godfrey, Rena A. ; Golden-Grant, Katie ; Goldrich, Madison P. ; Goldstein, David B. ; Grajewski, Alana ; Groden, Catherine A. ; Gutierrez, Irma ; Hahn, Sihoun ; Hamid, RizwanPublisher:England: BioMed Central LtdJournal title:Orphanet journal of rare diseases, 2023-01, Vol.18 (1), p.6-8, Article 6View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Holt, James M. ; Wilk, Brandon ; Birch, Camille L. ; Brown, Donna M. ; Gajapathy, Manavalan ; Moss, Alexander C. ; Sosonkina, Nadiya ; Wilk, Melissa A. ; Anderson, Julie A. ; Harris, Jeremy M. ; Kelly, Jacob M. ; Shaterferdosian, Fariba ; Uno-Antonison, Angelina E. ; Weborg, Arthur ; Worthey, Elizabeth A.Publisher:England: BioMed Central LtdJournal title:BMC bioinformatics, 2019-10, Vol.20 (1), p.496-10, Article 496View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Morimoto, Marie ; Bhambhani, Vikas ; Gazzaz, Nour ; Davids, Mariska ; Sathiyaseelan, Paalini ; Macnamara, Ellen F. ; Lange, Jennifer ; Lehman, Anna ; Zerfas, Patricia M. ; Murphy, Jennifer L. ; Acosta, Maria T. ; Wang, Camille ; Alderman, Emily ; Reichert, Sara ; Thurm, Audrey ; Adams, David R. ; Introne, Wendy J. ; Gorski, Sharon M. ; Boerkoel, Cornelius F. ; Gahl, William A. ; Tifft, Cynthia J. ; Malicdan, May Christine V.Publisher:London: Nature Publishing Group UKJournal title:Npj genomic medicine, 2023-02, Vol.8 (1), p.4-16, Article 4View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Rebelo, Adriana P. ; Jeanne, Médéric ; Danzi, Matt C. ; Tekin, Mustafa ; Acosta, Maria T. ; Andrews, Ashley ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bayrak‐Toydemir, Pinar ; Beck, Anita ; Bennett, Jimmy ; Berry, Gerard T. ; Bican, Anna ; Bohnsack, John ; Bonner, Devon ; Butte, Manish J. ; Byrd, William E. ; Cassini, Thomas ; Chao, Hsiao‐Tuan ; Coakley, Terra R. ; Cobban, Laurel A. ; Cole, F. Sessions ; Colley, Heather A. ; Corner, Brian ; Dai, Hongzheng ; Davis, Joie ; Delgado, Margaret ; Douine, Emilie D. ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Fisher, Paul G. ; Fogel, Brent L. ; Fu, Jiayu ; Glass, Ian ; Gropman, Andrea ; Halley, Meghan C. ; Hassey, Kelly ; Hayes, Nichole ; Horike‐Pyne, Martha ; Huang, Alden ; Izumi, Kosuke ; Jean‐Marie, Orpa ; Jobanputra, Vaidehi ; Ketkar, Shamika ; Kohler, Jennefer N. ; Kravets, Elijah ; Lalani, Seema R. ; Latchman, Kumarie ; LeBlanc, Kimberly ; Lewis, Richard A. ; Liu, Pengfei ; Loo, Sandra K. ; MacRae, Calum A. ; Maghiro, AudreyStephannie C. ; Mahoney, Rachel ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Marth, Gabor ; Martínez‐Agosto, Julian A. ; McConkie‐Rosell, Allyn ; Morava, Eva ; Moretti, Paolo ; Morimoto, Marie ; Neumann, Serena ; Novacic, Donna ; Oglesbee, Devin ; Papp, Jeanette C. ; Petcharet, Leoyklang ; Posey, Jennifer E. ; Potocki, Lorraine ; Rao, Deepak A. ; Raskind, Wendy ; Rosenfeld, Jill A. ; Sabaii, Marla ; Scott, Daryl A. ; Shashi, Vandana ; Shin, Jimann ; Silverman, Edwin K. ; Sisco, Kathy ; Smith, Edward C. ; Smith, Carson A. ; Smith, Kevin S. ; Solomon, Ben ; Stergachis, Andrew ; Sullivan, Kathleen ; Tabor, Holly K. ; Tan, Queenie K.‐G. ; Thorson, Willa ; Viskochil, Dave ; Walker, Melissa ; Walley, Nicole M. ; Wambach, Jennifer ; Ward, Patricia A. ; Wegner, Daniel ; Hubshman, Monika Weisz ; Wenger, Tara ; Westerfield, Monte ; Worley, KimPublisher:United States: John Wiley and Sons IncJournal title:Annals of clinical and translational neurology, 2024-04, Vol.11 (4), p.1075-1079View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Kyle, Jennifer E. ; Stratton, Kelly G. ; Zink, Erika M. ; Kim, Young-Mo ; Bloodsworth, Kent J. ; Monroe, Matthew E. ; Waters, Katrina M. ; Webb-Robertson, Bobbie-Jo M. ; Koeller, David M. ; Metz, Thomas O.Publisher:London: Nature Publishing Group UKJournal title:Scientific data, 2021-04, Vol.8 (1), p.114-114, Article 114View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Macnamara, Ellen F. ; McGuire, Peter ; Adam, Margaret ; Alejandro, Mercedes E ; Alvey, Justin ; Ashley, Euan A ; Balasubramanyam, Ashok ; Bayrak‐Toydemir, Pinar ; Beck, Anita ; Beggs, Alan H ; Bohnsack, John ; Bonner, Devon ; Botto, Lorenzo ; Butte, Manish J ; Chanprasert, Sirisak ; Coakley, Terra R ; Coggins, Matthew ; Cope, Heidi ; Craigen, William J ; Crouse, Andrew B ; Davids, Mariska ; Dayal, Jyoti G ; Dell'Angelica, Esteban C ; Dorrani, Naghmeh ; Draper, David D ; Earl, Dawn ; Eckstein, David J ; Emrick, Lisa T ; Eng, Christine M ; Ferreira, Carlos ; Findley, Laurie C ; Goldman, Alica M ; Groden, Catherine A ; Gropman, Andrea L ; Gutierrez, Irma ; Hanchard, Neil A ; Hassey, Kelly ; Hayes, Nichole ; Hisama, Fuki M ; Holm, Ingrid A ; Hom, Jason ; Horike‐Pyne, Martha ; Huang, Alden ; Isasi, Rosario ; Johnston, Jean M ; Kennedy, Jennifer ; Kiley, Dana ; Kohane, Isaac S ; Krier, Joel B ; Lee, Hane ; Liu, Xue Zhong ; Maas, Richard L ; Macnamara, Ellen F. ; MacRae, Calum A ; Mak, Bryan ; Manolio, Teri A ; Marom, Ronit ; Marth, Gabor ; Martínez‐Agosto, Julian A ; McConkie‐Rosell, Allyn ; McCormack, Colleen E ; McCray, Alexa T ; McGee, Elisabeth ; Might, Matthew ; Mirzaa, Ghayda ; Mulvihill, John J ; Nelson, Stan F ; Nickerson, Deborah ; Nieves‐Rodriguez, Shirley ; Phillips, John A. ; Pusey, Barbara N ; Raskind, Wendy ; Raja, Archana N ; Robertson, Amy K ; Rodan, Lance H ; Ruzhnikov, Maura ; Sampson, Jacinda B ; Scott, C. Ron ; Schaechter, Judy ; Schedl, Timothy ; Schoch, Kelly ; Scott, Daryl A ; Shin, Jimann ; Signer, Rebecca ; Sinsheimer, Janet S ; Solem, Emily ; Sullivan, Jennifer A ; Sun, Angela ; Telischi, Fred ; Toro, Camilo ; Tran, Alyssa A ; Wang, Lee‐kai ; Wangler, Michael F ; Ward, Patricia A ; Perry, Katherine Wesseling ; Westerfield, Monte ; Whitlock, Jordan ; Woods, Jeremy D ; Yamamoto, Shinya ; Yu, GuoyunPublisher:United States: John Wiley & Sons, IncJournal title:Molecular genetics & genomic medicine, 2021-06, Vol.9 (6), p.e1692-n/aView online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Frésard, Laure ; Smail, Craig ; Ferraro, Nicole M. ; Teran, Nicole A. ; Li, Xin ; Smith, Kevin S. ; Bonner, Devon ; Kernohan, Kristin D. ; Marwaha, Shruti ; Zappala, Zachary ; Balliu, Brunilda ; Davis, Joe R. ; Liu, Boxiang ; Prybol, Cameron J. ; Kohler, Jennefer N. ; Zastrow, Diane B. ; Reuter, Chloe M. ; Fisk, Dianna G. ; Grove, Megan E. ; Davidson, Jean M. ; Hartley, Taila ; Joshi, Ruchi ; Strober, Benjamin J. ; Utiramerur, Sowmithri ; Lind, Lars ; Ingelsson, Erik ; Battle, Alexis ; Bejerano, Gill ; Bernstein, Jonathan A. ; Ashley, Euan A. ; Boycott, Kym M. ; Merker, Jason D. ; Wheeler, Matthew T. ; Montgomery, Stephen B.Publisher:New York: Nature Publishing Group USJournal title:Nature medicine, 2019-06, Vol.25 (6), p.911-919View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Kodati, Shilpa ; Mattapallil, Mary J ; Tian, Xiaoying ; Soldatos, Ariane ; Kao-Hsieh, Marie ; Cowen, Edward W ; Kalsi, Shelley ; Khavandgar, Zohreh ; Rosenzweig, Sofia ; Romeo, Tina ; Sen, Nida ; Dusser, Perrine ; Touitou, Isabelle ; Titah, Salah Mohamed ; van der Spek, Peter J ; Apalset, Ellen M ; Nishikomori, Ryuta ; Sangiorgi, Eugenio ; Manna, Raffaele ; Brooks, Brian P ; Sobrin, Lucia ; Beck, David ; Aksentijevich, Ivona ; Kastner, Daniel L ; Azamian, Mahshid S. ; Bademci, Guney ; Balasubramanyam, Ashok ; Bamshad, Michael ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Behrens, Edward ; Berg-Rood, Beverly ; Bonner, Devon ; Brokamp, Elly ; Brown, Gabrielle ; Carey, John ; Chang, TaChen Peter ; Chao, Hsiao-Tuan ; Coakley, Terra R. ; Coggins, Matthew ; Cooper, Cynthia M. ; Craigen, William J. ; Davis, Joie ; Dipple, Katrina ; Doss, Argenia L. ; Emrick, Lisa T. ; Falk, Marni ; Fernandez, Liliana ; Fieg, Elizabeth L. ; Fisher, Paul G. ; Glass, Ian ; Golden-Grant, Katie ; Grajewski, Alana ; Don Hadley, Sihoun Hahn ; High, Frances ; Holm, Ingrid A. ; Huang, Alden ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Kennedy, Jennifer ; Kobren, Shilpa N. ; Lam, Byron ; Lanza, Ian R. ; LeBlanc, Kimberly ; Lewis, Richard A. ; Loo, Sandra K. ; MacRae, Calum A. ; Mak, Bryan C. ; McCauley, Jacob ; McGee, Elisabeth ; Mirzaa, Ghayda ; Nakano-Okuno, Mariko ; Orengo, James P. ; Carl Pallais, J. ; Pusey, Barbara N. ; Raskind, Wendy ; Rosenfeld, Jill A. ; Ruzhnikov, Maura ; Sacco, Ralph ; Schedl, Timothy ; Schoch, Kelly ; Shashi, Vandana ; Sisco, Kathy ; Ben Solomon, Rebecca C. Spillmann ; Sullivan, Jennifer A. ; Sun, Angela ; Tabor, Holly K. ; Tran, Alyssa A. ; Vanderver, Adeline ; Viskochil, Dave ; Wambach, Jennifer ; Wan, Jijun ; Ward, Patricia A. ; Weisz-Hubshman, Monika ; Perry, Katherine Wesseling ; Westerfield, Monte ; Worley, Kim ; Xiao, Changrui ; Yang, John ; Zuchner, StephanPublisher:England: BMJ Publishing Group Ltd and European League Against RheumatismJournal title:Annals of the rheumatic diseases, 2022-10, Vol.81 (10), p.1453-1464View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Erger, Florian ; Settas, Nikolaos ; London, Edra ; Torti, Erin ; Nelson, Stanley F. ; Acosta, Maria T. ; Adams, David R. ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bale, Jim ; Bamshad, Michael ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Bennett, Jimmy ; Bernstein, Jonathan A. ; Blue, Elizabeth ; Bohnsack, John ; Bonnenmann, Carsten ; Boyd, Brenna ; Brokamp, Elly ; Burke, Elizabeth A. ; Byrd, William E. ; Carrasquillo, Olveen ; Chanprasert, Sirisak ; Chao, Hsiao-Tuan ; Coggins, Matthew ; Cole, F. Sessions ; Crouse, Andrew B. ; Cunningham, Michael ; D’Souza, Precilla ; Dai, Hongzheng ; Dipple, Katrina ; Doherty, Daniel ; Earl, Dawn ; Eckstein, David J. ; Eng, Christine M. ; Ferreira, Carlos ; Glass, Ian ; Gochuico, Bernadette ; Goldman, Alica M. ; Goldstein, David B. ; Hassey, Kelly ; Hom, Jason ; Huang, Yong ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Krasnewich, Donna M. ; LaMoure, Grace L. ; Lalani, Seema R. ; Lanpher, Brendan C. ; Latham, Lea ; Liu, Pengfei ; Liu, Xue Zhong ; Macnamara, Ellen F. ; Malicdan, May Christine V. ; Manolio, Teri A. ; Maravilla, Kenneth ; Marom, Ronit ; Martin, Beth A. ; Marwaha, Shruti ; McCormack, Colleen E. ; McGee, Elisabeth ; Might, Matthew ; Nakano-Okuno, Mariko ; Nath, Avi ; Nicholas, Sarah K. ; Novacic, Donna ; Orengo, James P. ; Pallais, J. Carl ; Palmer, Christina G.S. ; Parker, Neil H. ; Posey, Jennifer E. ; Quinlan, Aaron ; Reuter, Chloe M. ; Robertson, Amy K. ; Ruzhnikov, Maura ; Samson, Susan L. ; Saporta, Mario ; Schaechter, Judy ; Signer, Rebecca H. ; Smith, Kevin S. ; Ben Solomon ; Stoler, Joan M. ; Sullivan, Jennifer A. ; Sullivan, Kathleen ; Sun, Angela ; Tabor, Holly K. ; Tucker, Brianna M. ; Vanderver, Adeline ; Wallace, Stephanie ; Wangler, Michael F. ; Ward, Patricia A. ; Whitlock, Jordan ; Wolfe, Lynne A. ; Woods, Jeremy D. ; Zastrow, Diane B. ; Grange, Dorothy K. ; Willaert, Rebecca ; Theiß, Susanne ; Stocco, AmberPublisher:New York: Elsevier IncJournal title:Genetics in medicine, 2021-08, Vol.23 (8), p.1465-1473View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Krier, Joel B. ; Züchner, Stephan ; Huang, Alden ; Bastarache, Lisa ; Bican, Anna ; Liu, Pengfei ; Adam, Margaret ; Alejandro, Mercedes E. ; Alvey, Justin ; Azamian, Mahshid S. ; Bademci, Guney ; Baker, Eva ; Balasubramanyam, Ashok ; Bale, Jim ; Beck, Anita ; Bennett, Jimmy ; Berry, Gerard T. ; Bican, Anna ; Bohnsack, John ; Bonner, Devon ; Boyd, Brenna ; Brown, Gabrielle ; Burrage, Lindsay C. ; Butte, Manish J. ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Cole, F. Sessions ; Cunningham, Michael ; Dorrani, Naghmeh ; Doss, Argenia L. ; Douine, Emilie D. ; Eng, Christine M. ; Falk, Marni ; Ferreira, Carlos ; Findley, Laurie C. ; Fogel, Brent L. ; Forghani, Irman ; Gahl, William A. ; Glass, Ian ; Godfrey, Rena A. ; Hanchard, Neil A. ; Hing, Anne ; Huryn, Laryssa ; Isasi, Rosario ; Kiley, Dana ; Korrick, Susan ; Krakow, Deborah ; Lalani, Seema R. ; LeBlanc, Kimberly ; Liu, Xue Zhong ; MacDowall, John ; MacRae, Calum A. ; Mamounas, Laura A. ; Maravilla, Kenneth ; Markello, Thomas C. ; Martin, Beth A. ; Martin, Martin G. ; Marwaha, Shruti ; McCauley, Jacob ; Merritt, J. Lawrence ; Might, Matthew ; Moretti, Paolo ; Murdock, David R. ; Nakano-Okuno, Mariko ; Nickerson, Deborah ; Oglesbee, Devin ; Pace, Laura ; Pallais, J. Carl ; Papp, Jeanette C. ; Phillips, John A. ; Power, Bradley ; Pusey, Barbara N. ; Raja, Archana N. ; Renteria, Genecee ; Rosenwasser, Natalie ; Rossignol, Francis ; Ruzhnikov, Maura ; Sampson, Jacinda B. ; Schedl, Timothy ; Shin, Jimann ; Smith, Edward C. ; Sun, Angela ; Sutton, Shirley ; Sweetser, David A. ; Sybert, Virginia ; Toro, Camilo ; Tucker, Brianna M. ; Velinder, Matt ; Viskochil, Dave ; Wambach, Jennifer ; Wang, Lee-kai ; Ward, Patricia A. ; Wener, Mark ; Westerfield, Monte ; Whitlock, Jordan ; Woods, Jeremy D. ; Yamamoto, Shinya ; Yang, John ; Zein, WadihPublisher:New York: Elsevier IncJournal title:Genetics in medicine, 2021-06, Vol.23 (6), p.1075-1085View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Ravenscroft, Thomas A. ; Fieg, Elizabeth ; Zirin, Jonathan ; Kanca, Oguz ; Adam, Margaret ; Agrawal, Pankaj B. ; Alejandro, Mercedes E. ; Alvey, Justin ; Andrews, Ashley ; Azamian, Mahshid S. ; Bademci, Guney ; Balasubramanya, Ashok ; Behrens, Edward ; Bican, Anna ; Bohnsack, John ; Botto, Lorenzo ; Brown, Gabrielle ; Byers, Peter ; Chanprasert, Sirisak ; Chao, Hsiao-Tuan ; Cobban, Laurel A. ; Cogan, Joy D. ; Colley, Heather A. ; Cope, Heidi ; Craigen, William J. ; Crouse, Andrew B. ; Dai, Hongzheng ; Dayal, Jyoti G. ; Dipple, Katrina ; Dorrani, Naghmeh ; Draper, David D. ; Emrick, Lisa T. ; Falk, Marni ; Fernandez, Liliana ; Fieg, Elizabeth L. ; Findley, Laurie C. ; Gahl, William A. ; Godfrey, Rena A. ; Goldman, Alica M. ; Goldstein, David B. ; Hamid, Rizwan ; Hanchard, Neil A. ; Hassey, Kelly ; Hayes, Nichole ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Holm, Ingrid A. ; Huang, Yong ; Huryn, Laryssa ; Isasi, Rosario ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Kiley, Dana ; Krasnewich, Donna M. ; Lam, Christina ; Lee, Hane ; MacDowall, John ; Majcherska, Marta M. ; Mak, Bryan C. ; Mamounas, Laura A. ; Martínez-Agosto, Julian A. ; McCauley, Jacob ; Mulvihill, John J. ; Newman, John H. ; Oglesbee, Devin ; Pace, Laura ; Pallais, J. Carl ; Palmer, Christina GS ; Posey, Jennifer E. ; Potocki, Lorraine ; Power, Bradley ; Pusey, Barbara N. ; Rives, Lynette ; Sacco, Ralph ; Sampson, Jacinda B. ; Samson, Susan L. ; Scott, C. Ron ; Schedl, Timothy ; Shashi, Vandana ; Tan, Queenie K.-G. ; Toro, Camilo ; Viskochil, Dave ; Wahl, Colleen E. ; Wambach, Jennifer ; Wang, Lee-kai ; Wener, Mark ; Perry, Katherine Wesseling ; Westerfield, Monte ; Whitlock, Jordan ; Yamamoto, Shinya ; Yang, John ; Yousef, Muhammad ; Zastrow, Diane B. ; Zhao, Chunli ; Osmond, Matthew ; Postlethwait, John H. ; Krier, Joel ; Bellen, Hugo J.Publisher:New York: Elsevier IncJournal title:Genetics in medicine, 2021-10, Vol.23 (10), p.1889-1900View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Cope, Heidi ; Hoppman, Nicole ; Rehder, Catherine ; Alkelai, Anna ; Vilain, Eric ; Shashi, Vandana ; Acosta, Maria T ; Adams, David R ; Amendola, Laura ; Andrews, Ashley ; Bacino, Carlos A. ; Baker, Eva ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bernstein, Jonathan A. ; Bonner, Devon ; Brokamp, Elly ; Brown, Gabrielle ; Carrasquillo, Olveen ; Chao, Hsiao‐Tuan ; Cobban, Laurel A. ; Cogan, Joy D. ; Crouse, Andrew B. ; Cunningham, Michael ; Dasari, Surendra ; Davis, Joie ; Dayal, Jyoti G. ; Deardorff, Matthew ; Douine, Emilie D. ; Draper, David D. ; Fieg, Elizabeth L. ; Findley, Laurie C. ; Fogel, Brent L. ; Fresard, Laure ; Golden‐Grant, Katie ; Goldrich, Madison P ; Grajewski, Alana ; High, Frances ; Hisama, Fuki M. ; Holm, Ingrid A. ; Isasi, Rosario ; Jarvik, Gail P. ; Jayadev, Suman ; Karaviti, Lefkothea ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Kravets, Elijah ; Lam, Byron ; Lam, Christina ; Lee, Hane ; Levitt, Roy ; Liu, Pengfei ; Longo, Nicola ; Majcherska, Marta M. ; Manolio, Teri A. ; Mao, Rong ; Martínez‐Agosto, Julian A. ; Marwaha, Shruti ; McCauley, Jacob ; McCray, Alexa T. ; McGee, Elisabeth ; Mefford, Heather ; Mirzaa, Ghayda ; Mosbrook‐Davis, Deborah ; Newman, John H ; Nickerson, Deborah ; Nieves‐Rodriguez, Shirley ; Orengo, James P. ; Parker, Neil H. ; Phillips, John A. ; Posey, Jennifer E. ; Potocki, Lorraine ; Raskind, Wendy ; Raja, Archana N. ; Rosenfeld, Jill A. ; Sacco, Ralph ; Sampson, Jacinda B. ; Saporta, Mario ; Schaechter, Judy ; Schoch, Kelly ; Signer, Rebecca ; Sisco, Kathy ; Smith, Edward C. ; Spillmann, Rebecca C. ; Sullivan, Kathleen ; Tabor, Holly K. ; Tifft, Cynthia J. ; Tucker, Brianna M. ; Urv, Tiina K. ; Vogel, Tiphanie P. ; Walsh, Chris A. ; Walker, Melissa ; Wan, Jijun ; Wangler, Michael F. ; Wener, Mark ; Wheeler, Matthew T. ; Whitlock, Jordan ; Yang, John ; Zhao, ChunliPublisher:United States: John Wiley & Sons, IncJournal title:Molecular genetics & genomic medicine, 2021-07, Vol.9 (7), p.e1665-n/aView online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Donkervoort, Sandra ; Mohassel, Payam ; Brull, Astrid ; Mozaffar, Tahseen ; Dyment, David A. ; Pajusalu, Sander ; Hurth, Kyle ; McWalter, Kirsty ; Warman‐Chardon, Jodi ; Crunk, Amy ; Foley, A. Reghan ; Allworth, Aimee ; Andrews, Ashley ; Bacino, Carlos A. ; Bademci, Guney ; Baldridge, Dustin ; Bale, Jim ; Barbouth, Deborah ; Beggs, Alan H. ; Berry, Gerard T. ; Bivona, Stephanie ; Blue, Elizabeth ; Brown, Gabrielle ; Butte, Manish J. ; Cassini, Thomas ; Chao, Hsiao‐Tuan ; Chinn, Ivan ; Cogan, Joy D. ; Coggins, Matthew ; Corona, Rosario ; Crouse, Andrew B. ; Dai, Hongzheng ; Davis, Joie ; Douine, Emilie D. ; Emrick, Lisa T. ; Fu, Jiayu ; Hamid, Rizwan ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Horike‐Pyne, Martha ; Huang, Yan ; Hutchison, Sarah ; Kilich, Gonench ; Kobren, Shilpa N. ; Krakow, Deborah ; Krasnewich, Donna M. ; Lam, Christina ; Lanpher, Brendan C. ; Lanza, Ian R. ; Liu, Pengfei ; Longo, Nicola ; Maduro, Valerie V. ; Manolio, Teri A. ; Mao, Rong ; Marom, Ronit ; Martin, Beth A. ; Martin, Martin G. ; Marwaha, Shruti ; McConkie‐Rosell, Allyn ; McGee, Elisabeth ; Miller, Danny ; Mirzaa, Ghayda ; Nakano‐Okuno, Mariko ; Nelson, Stanley F. ; Nieves‐Rodriguez, Shirley ; Pallais, J. Carl ; Petcharet, Leoyklang ; Phillips, John A. ; Quinlan, Aaron ; Rosenfeld, Jill A. ; Sabaii, Marla ; Scott, Daryl A. ; Shashi, Vandana ; Shin, Jimann ; Silverman, Edwin K. ; Sisco, Kathy ; Solomon, Ben ; Sullivan, Kathleen ; Sutton, Shirley ; Tan, Queenie K.‐G. ; Amelia, L. M. Tan ; Taylor, Herman ; Tekin, Mustafa ; Toro, Camilo ; Ungar, Rachel A. ; Vanderver, Adeline ; Walker, Melissa ; Wang, Lee‐kai ; Wangler, Michael F. ; Wegner, Daniel ; Wener, Mark ; Westerfield, Monte ; Whitlock, Jordan ; Wolfe, Lynne A. ; Worley, Kim ; Yamamoto, Shinya ; Zhang, Zhe ; Mammen, Andrew L. ; O'Donnell‐Luria, AnnePublisher:United States: John Wiley & Sons, IncJournal title:Annals of clinical and translational neurology, 2024-03, Vol.11 (3), p.629-640View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.
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