36 results for Barbouth,+Deborah

36 results for Barbouth,+Deborah

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    Author / Creator:Al-Sannaa, Nouriya A. ; Bay, Luisa ; Barbouth, Deborah S. ; Benhayoun, Youssef ; Goizet, Cyril ; Guelbert, Norberto ; Jones, Simon A. ; Kyosen, Sandra Obikawa ; Martins, Ana Maria ; Phornphutkul, Chanika ; Reig, Celia ; Pleat, Rebecca ; Fallet, Shari ; Ivanovska Holder, Iva
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2015-10, Vol.10 (1), p.131-131, Article 131
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    Author / Creator:Yrigollen, Carolyn M ; Martorell, Loreto ; Durbin-Johnson, Blythe ; Naudo, Montserrat ; Genoves, Jordi ; Murgia, Alessandra ; Polli, Roberta ; Zhou, Lili ; Barbouth, Deborah ; Rupchock, Abigail ; Finucane, Brenda ; Latham, Gary J ; Hadd, Andrew ; Berry-Kravis, Elizabeth ; Tassone, Flora
    Publisher:England: BioMed Central Ltd
    Journal title:Journal of neurodevelopmental disorders, 2014-07, Vol.6 (1), p.24-24, Article 24
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    Author / Creator:Pastori, Chiara ; Peschansky, Veronica J. ; Barbouth, Deborah ; Mehta, Arpit ; Silva, Jose P. ; Wahlestedt, Claes
    Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
    Journal title:Human genetics, 2014-01, Vol.133 (1), p.59-67
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    Author / Creator:Kaufmann, Walter E. ; Raspa, Melissa ; Bann, Carla M. ; Gable, Julia M. ; Harris, Holly K. ; Budimirovic, Dejan B. ; Lozano, Reymundo
    Publisher:New York: Springer US
    Journal title:Journal of autism and developmental disorders, 2024-02, Vol.54 (2), p.725-737
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    Author / Creator:Ruiter, Jos P.N. ; van Lint, Alida E.M. ; Pras-Raves, Mia ; Wever, Eric ; Guillen Sacoto, Maria J. ; Begtrup, Amber ; Tarnopolsky, Mark ; Sell, Susan L. ; Nowak, Catherine B. ; Douglas, Jessica ; Perlman, Seth ; Martin, Nicole ; Brault, Jennifer ; Gahl, William A. ; Alejandro, Mercedes E. ; Dai, Hongzheng ; Dhar, Shweta U. ; Hanchard, Neil A. ; Lee, Brendan H. ; Moretti, Paolo M. ; Murdock, David R. ; Nicholas, Sarah K. ; Potocki, Lorraine ; Scott, Daryl A. ; Eng, Christine M. ; Deardorff, Matthew ; Hassey, Kelly ; Sullivan, Kathleen ; Tan, Queenie K.-G. ; Beggs, Alan H. ; Berry, Gerard T. ; Cooper, Cynthia M. ; Pallais, J. Carl ; Rodan, Lance H. ; Kelley, Emily G. ; Morava, Eva ; Forghani, Irman ; Lam, Byron ; Levitt, Roy ; Liu, Xue Zhong ; McCauley, Jacob ; Tekin, Mustafa ; Thorson, Willa ; Findley, Laurie C. ; Krasnewich, Donna M. ; Manolio, Teri A. ; Goldrich, Madison P. ; Draper, David D. ; Nath, Avi ; Pusey, Barbara N. ; Toro, Camilo ; Baker, Eva ; Gochuico, Bernadette ; Mosbrook-Davis, Deborah ; Rossignol, Francis ; Adam, Margaret ; Amendola, Laura ; Cunningham, Michael ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Lam, Christina ; Raskind, Wendy ; Sybert, Virginia ; Ashley, Euan A. ; Coakley, Terra R. ; Hom, Jason ; Majcherska, Marta M. ; Martin, Beth A. ; Marwaha, Shruti ; Ruzhnikov, Maura ; Tabor, Holly K. ; Tucker, Brianna M. ; Zastrow, Diane B. ; Byrd, William E. ; Dell’Angelica, Esteban C. ; Douine, Emilie D. ; Mak, Bryan C. ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; McGee, Elisabeth ; Nelson, Stanley F. ; Parker, Neil H. ; Sinsheimer, Janet S. ; Wang, Lee-kai ; Perry, Katherine Wesseling ; Woods, Jeremy D. ; Pace, Laura ; Marth, Gabor ; Viskochil, Dave ; Bayrak-Toydemir, Pinar ; Duncan, Laura ; Robertson, Amy K. ; Solem, Emily ; Schedl, Timothy ; Shin, Jimann ; Solnica-Krezel, Lilianna ; Waisfisz, Quinten ; Zwijnenburg, Petra J.G. ; Wanders, Ronald J.A. ; Vaz, Frédéric M.
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2021-04, Vol.23 (4), p.740-750
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    Author / Creator:Kurata, Harley T. ; Jamra, Rami Abou ; Alkelai, Anna ; Antonarakis, Stylianos E. ; Bolkier, Yoav ; Dickson, Patricia ; Donald, Kirsten A. ; Eliyahu, Aviva ; Emrick, Lisa ; Odent, Sylvie ; Ortiz-Gonzalez, Xilma ; Rosenfeld, Jill A. ; Skraban, Cara ; Alejandro, Mercedes E. ; Azamian, Mahshid S. ; Chao, Hsiao-Tuan ; Dai, Hongzheng ; Dhar, Shweta U. ; Karaviti, Lefkothea ; Lee, Brendan H. ; Rosenfeld, Jill A. ; Scott, Daryl A. ; Wangler, Michael F. ; Eng, Christine M. ; Sullivan, Kathleen ; Goldstein, David B. ; McConkie-Rosell, Allyn ; Schoch, Kelly ; Shashi, Vandana ; Beggs, Alan H. ; Cobban, Laurel A. ; Cooper, Cynthia M. ; Fieg, Elizabeth L. ; Korrick, Susan ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Stoler, Joan M. ; Nagy, Anna ; Dasari, Surendra ; Lanpher, Brendan C. ; Bivona, Stephanie ; Isasi, Rosario ; Levitt, Roy ; Tekin, Mustafa ; Thorson, Willa ; Eckstein, David J. ; Mamounas, Laura A. ; D’Souza, Precilla ; Ferreira, Carlos ; Godfrey, Rena A. ; Groden, Catherine A. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Nath, Avi ; Baker, Eva ; Power, Bradley ; Mosbrook-Davis, Deborah ; Rossignol, Francis ; Yousef, Muhammad ; Amendola, Laura ; Bamshad, Michael ; Beck, Anita ; Bennett, Jimmy ; Blue, Elizabeth ; Chanprasert, Sirisak ; Glass, Ian ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Mefford, Heather ; Merritt, J. Lawrence ; Raskind, Wendy ; Sybert, Virginia ; Wener, Mark ; Wenger, Tara ; Fisher, Paul G. ; Reuter, Chloe M. ; Smith, Kevin S. ; Zastrow, Diane B. ; Nakano-Okuno, Mariko ; Whitlock, Jordan ; Butte, Manish J. ; Fogel, Brent L. ; Krakow, Deborah ; Lee, Hane ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Woods, Jeremy D. ; Andrews, Ashley ; Pace, Laura ; Viskochil, Dave ; Bican, Anna ; Kennedy, Jennifer ; Cogan, Joy D. ; Cole, F. Sessions ; Kiley, Dana ; Sisco, Kathy ; Schedl, Timothy ; Solnica-Krezel, Lilianna ; Pitt, Geoffrey S.
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2021-10, Vol.23 (10), p.1922-1932
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    Author / 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, Vandana
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2021-02, Vol.23 (2), p.259-271
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    Author / 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, Amber
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2021-08, Vol.23 (8), p.1465-1473
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    Author / 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 Inc
    Journal title:Genetics in medicine, 2021-10, Vol.23 (10), p.1889-1900
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    Author / 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, Wadih
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2021-06, Vol.23 (6), p.1075-1085
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    Author / Creator:Castilla-Vallmanya, Laura ; Selmer, Kaja K. ; Dimartino, Clémantine ; Rabionet, Raquel ; Blanco-Sánchez, Bernardo ; Yang, Sandra ; Reijnders, Margot R. F. ; van Essen, Antonie J. ; Oufadem, Myriam ; Vigeland, Magnus D. ; Stadheim, Barbro ; Houge, Gunnar ; Cox, Helen ; Kingston, Helen ; Clayton-Smith, Jill ; Innis, Jeffrey W. ; Iascone, Maria ; Cereda, Anna ; Gabbiadini, Sara ; Chung, Wendy K. ; Sanders, Victoria ; Charrow, Joel ; Bryant, Emily ; Millichap, John ; Vitobello, Antonio ; Thauvin, Christel ; Mau-Them, Frederic Tran ; Faivre, Laurence ; Lesca, Gaetan ; Labalme, Audrey ; Rougeot, Christelle ; Chatron, Nicolas ; Sanlaville, Damien ; Christensen, Katherine M. ; Kirby, Amelia ; Lewandowski, Raymond ; Gannaway, Rachel ; Aly, Maha ; Lehman, Anna ; Clarke, Lorne ; Graul-Neumann, Luitgard ; Zweier, Christiane ; Lessel, Davor ; Lozic, Bernarda ; Aukrust, Ingvild ; Peretz, Ryan ; Stratton, Robert ; Smol, Thomas ; Dieux-Coëslier, Anne ; Meira, Joanna ; Wohler, Elizabeth ; Sobreira, Nara ; Beaver, Erin M. ; Heeley, Jennifer ; Briere, Lauren C. ; High, Frances A. ; Sweetser, David A. ; Walker, Melissa A. ; Keegan, Catherine E. ; Jayakar, Parul ; Shinawi, Marwan ; Kerstjens-Frederikse, Wilhelmina S. ; Earl, Dawn L. ; Siu, Victoria M. ; Reesor, Emma ; Yao, Tony ; Hegele, Robert A. ; Vaske, Olena M. ; Rego, Shannon ; Shapiro, Kevin A. ; Wong, Brian ; Gambello, Michael J. ; McDonald, Marie ; Karlowicz, Danielle ; Colombo, Roberto ; Serretti, Alessandro ; Pais, Lynn ; O’Donnell-Luria, Anne ; Wray, Alison ; Sadedin, Simon ; Chong, Belinda ; Tan, Tiong Y. ; Christodoulou, John ; White, Susan M. ; Slavotinek, Anne ; Barbouth, Deborah ; Morel Swols, Dayna ; Parisot, Mélanie ; Bole-Feysot, Christine ; Nitschké, Patrick ; Pingault, Véronique ; Munnich, Arnold ; Cho, Megan T. ; Cormier-Daire, Valérie ; Balcells, Susanna ; Lyonnet, Stanislas ; Grinberg, Daniel ; Amiel, Jeanne ; Urreizti, Roser ; Gordon, Christopher T.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2020-07, Vol.22 (7), p.1215-1226
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    Author / Creator:Fan, Yao-Shan ; Jayakar, Parul ; Zhu, Hongbo ; Barbouth, Deborah ; Sacharow, Stephanie ; Morales, Ana ; Carver, Virginia ; Benke, Paul ; Mundy, Peter ; Elsas, Louis J
    Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
    Journal title:Human mutation, 2007-11, Vol.28 (11), p.1124-1132
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    Author / Creator:Koziura, Mary E. ; Phillips, John A. ; Peterson, Josh F. ; Newman, John H. ; Bastarache, Lisa ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Clark, Gary D. ; Dhar, Shweta U. ; Jamal, Fariha ; Lalani, Seema R. ; Lewis, Richard A. ; Orengo, James P. ; Vogel, Tiphanie P. ; Wangler, Michael F. ; Goldstein, David B. ; Cope, Heidi ; Jiang, Yong-hui ; Spillmann, Rebecca C. ; Tan, Queenie K.-G. ; Walley, Nicole M. ; Fieg, Elizabeth L. ; Korrick, Susan ; Krier, Joel B. ; Maas, Richard L. ; Pallais, J. Carl ; Rodan, Lance H. ; Silverman, Edwin K. ; Esteves, Cecilia ; Kelley, Emily G. ; Kohane, Isaac S. ; Bick, David P. ; Birch, Camille L. ; Boone, Braden E. ; Levy, Shawn E. ; Worthey, Elizabeth A. ; Oglesbee, Devin ; Forghani, Irman ; Grajewski, Alana ; Isasi, Rosario ; McCauley, Jacob ; Sacco, Ralph ; Thorson, Willa ; Colley, Heather A. ; Krasnewich, Donna M. ; Mamounas, Laura A. ; Rowley, Robb K. ; Tamburro, Cecelia P. ; Bonnenmann, Carsten ; Estwick, Tyra ; Ferreira, Carlos ; Godfrey, Rena A. ; Groden, Catherine A. ; Maduro, Valerie V. ; Novacic, Donna ; Pusey, Barbara N. ; Sharma, Prashant ; Toro, Camilo ; Wahl, Colleen E. ; Yu, Guoyun ; Baker, Eva ; Adams, David R. ; Malicdan, May Christine V. ; Yang, John ; Koeller, David M. ; Kyle, Jennifer E. ; Webb-Robertson, Bobbie-Jo M. ; Bernstein, Jonathan A. ; Bonner, Devon ; Fernandez, Liliana ; Huang, Yong ; Kohler, Jennefer N. ; Majcherska, Marta M. ; Reuter, Chloe M. ; Sampson, Jacinda B. ; Wheeler, Matthew T. ; Zastrow, Diane B. ; Zhao, Chunli ; Fresard, Laure ; Bejerano, Gill ; Butte, Manish J. ; Dell’Angelica, Esteban C. ; Dorrani, Naghmeh ; Krakow, Deborah ; Lee, Hane ; Loo, Sandra K. ; Martin, Martin G. ; Woods, Jeremy D. ; Yoon, Amanda J. ; Botto, Lorenzo ; Andrews, Ashley ; Carey, John ; Quinlan, Aaron ; Bayrak-Toydemir, Pinar ; Postlethwait, John H. ; Shakachite, Lisa ; Wambach, Jennifer ; Wegner, Daniel ; Baldridge, Dustin ; Solnica-Krezel, Lilianna
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2021-10, Vol.23 (10), p.1830-1832
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    Author / Creator:Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen ; IJlst, Lodewijk ; Mooijer, Petra M. ; Ruiter, Jos P. N. ; van Lint, Alida E. M. ; Pras-Raves, Mia ; Wever, Eric ; Millan, Francisca ; Guillen Sacoto, Maria J. ; Begtrup, Amber ; Tarnopolsky, Mark ; Brady, Lauren ; Ladda, Roger L. ; Sell, Susan L. ; Nowak, Catherine B. ; Douglas, Jessica ; Tian, Cuixia ; Ulm, Elizabeth ; Perlman, Seth ; Drack, Arlene V. ; Chong, Karen ; Martin, Nicole ; Brault, Jennifer ; Brokamp, Elly ; Toro, Camilo ; Gahl, William A. ; Macnamara, Ellen F. ; Wolfe, Lynne ; Waisfisz, Quinten ; Zwijnenburg, Petra J. G. ; Ziegler, Alban ; Barth, Magalie ; Smith, Rosemarie ; Ellingwood, Sara ; Gaebler-Spira, Deborah ; Bakhtiari, Somayeh ; Kruer, Michael C. ; van Kampen, Antoine H. C. ; Wanders, Ronald J. A. ; Waterham, Hans R. ; Cassiman, David ; Vaz, Frédéric M.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2021-12, Vol.23 (12), p.2467-2467
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    Author / Creator:Kurata, Harley T. ; Jamra, Rami Abou ; Alkelai, Anna ; Antonarakis, Stylianos E. ; Bolkier, Yoav ; Dickson, Patricia ; Donald, Kirsten A. ; Eliyahu, Aviva ; Emrick, Lisa ; Odent, Sylvie ; Ortiz-Gonzalez, Xilma ; Rosenfeld, Jill A. ; Skraban, Cara ; Alejandro, Mercedes E. ; Azamian, Mahshid S. ; Chao, Hsiao-Tuan ; Dai, Hongzheng ; Dhar, Shweta U. ; Karaviti, Lefkothea ; Lee, Brendan H. ; Rosenfeld, Jill A. ; Scott, Daryl A. ; Wangler, Michael F. ; Eng, Christine M. ; Sullivan, Kathleen ; Goldstein, David B. ; McConkie-Rosell, Allyn ; Schoch, Kelly ; Shashi, Vandana ; Beggs, Alan H. ; Cobban, Laurel A. ; Cooper, Cynthia M. ; Fieg, Elizabeth L. ; Korrick, Susan ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Stoler, Joan M. ; Nagy, Anna ; Dasari, Surendra ; Lanpher, Brendan C. ; Bivona, Stephanie ; Isasi, Rosario ; Levitt, Roy ; Tekin, Mustafa ; Thorson, Willa ; Eckstein, David J. ; Mamounas, Laura A. ; D’Souza, Precilla ; Ferreira, Carlos ; Godfrey, Rena A. ; Groden, Catherine A. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Nath, Avi ; Baker, Eva ; Power, Bradley ; Mosbrook-Davis, Deborah ; Rossignol, Francis ; Yousef, Muhammad ; Amendola, Laura ; Bamshad, Michael ; Beck, Anita ; Bennett, Jimmy ; Blue, Elizabeth ; Chanprasert, Sirisak ; Glass, Ian ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Mefford, Heather ; Merritt, J. Lawrence ; Raskind, Wendy ; Sybert, Virginia ; Wener, Mark ; Wenger, Tara ; Fisher, Paul G. ; Reuter, Chloe M. ; Smith, Kevin S. ; Zastrow, Diane B. ; Nakano-Okuno, Mariko ; Whitlock, Jordan ; Butte, Manish J. ; Fogel, Brent L. ; Krakow, Deborah ; Lee, Hane ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Woods, Jeremy D. ; Andrews, Ashley ; Pace, Laura ; Viskochil, Dave ; Bican, Anna ; Kennedy, Jennifer ; Cogan, Joy D. ; Cole, F. Sessions ; Kiley, Dana ; Sisco, Kathy ; Schedl, Timothy ; Solnica-Krezel, Lilianna ; Pitt, Geoffrey S.
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2021-10, Vol.23 (10), p.2016-2016
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    Author / Creator:Orenstein, Marissa ; Barbouth, Deborah ; Bodamer, Olaf A ; Weinreb, Neal J
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2014-03, Vol.9 (1), p.45-45, Article 45
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    Author / Creator:Fan, Yao-Shan ; Ouyang, Xiaomei ; Peng, Jinghong ; Sacharow, Stephanie ; Tekin, Mustafa ; Barbouth, Deborah ; Bodamer, Olaf ; Yusupov, Roman ; Navarrete, Christina ; Heller, Ana H ; Pena, Sérgio DJ
    Publisher:England: BioMed Central Ltd
    Journal title:Molecular cytogenetics, 2013-09, Vol.6 (1), p.38-38
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    Author / Creator:Barbouth, Deborah ; Morales, Ana ; Villalba, Ricardo
    Publisher:United States: SLACK INCORPORATED
    Journal title:Pediatric annals, 2009-08, Vol.38 (8), p.431-438
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    Author / Creator:Barbouth, Deborah ; Slepak, Tatiana ; Klapper, Helene ; Lai, Kent ; Elsas, Louis J.
    Publisher:United States
    Journal title:Genetics in medicine, 2006-03, Vol.8 (3), p.178-182
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    Author / 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, Stephan
    Publisher:England: BMJ Publishing Group Ltd and European League Against Rheumatism
    Journal title:Annals of the rheumatic diseases, 2022-10, Vol.81 (10), p.1453-1464
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