95 results for Bacino,+Carlos+A

95 results for Bacino,+Carlos+A

Export record to excel

File type to download

Beta version
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Murdock, David R. ; Dai, Hongzheng ; Burrage, Lindsay C. ; Rosenfeld, Jill A. ; Ketkar, Shamika ; Müller, Michaela F. ; Yépez, Vicente A. ; Gagneur, Julien ; Liu, Pengfei ; Chen, Shan ; Jain, Mahim ; Zapata, Gladys ; Bacino, Carlos A. ; Chao, Hsiao-Tuan ; Moretti, Paolo ; Craigen, William J. ; Hanchard, Neil A. ; Lee, Brendan
    Publisher:United States: American Society for Clinical Investigation
    Journal title:The Journal of clinical investigation, 2021-01, Vol.131 (1), p.1-13
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Wangler, Michael F. ; Gonzaga-Jauregui, Claudia ; Gambin, Tomasz ; Penney, Samantha ; Moss, Timothy ; Chopra, Atul ; Probst, Frank J. ; Xia, Fan ; Yang, Yaping ; Werlin, Steven ; Eglite, Ieva ; Kornejeva, Liene ; Bacino, Carlos A. ; Baldridge, Dustin ; Neul, Jeff ; Lehman, Efrat Lev ; Larson, Austin ; Beuten, Joke ; Muzny, Donna M. ; Jhangiani, Shalini ; Gibbs, Richard A. ; Lupski, James R. ; Beaudet, Arthur
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2014-03, Vol.10 (3), p.e1004258-e1004258
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Gu, Shen ; Szafranski, Przemyslaw ; Akdemir, Zeynep Coban ; Yuan, Bo ; Cooper, Mitchell L. ; Magriñá, Maria A. ; Bacino, Carlos A. ; Lalani, Seema R. ; Breman, Amy M. ; Smith, Janice L. ; Patel, Ankita ; Song, Rodger H. ; Bi, Weimin ; Cheung, Sau Wai ; Carvalho, Claudia M. B. ; Stankiewicz, Paweł ; Lupski, James R.
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2016-11, Vol.12 (11), p.e1006446
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Lu, Xinyan ; Shaw, Chad A. ; Patel, Ankita ; Li, Jiangzhen ; Cooper, M. Lance ; Wells, William R. ; Sullivan, Cathy M. ; Sahoo, Trilochan ; Yatsenko, Svetlana A. ; Bacino, Carlos A. ; Stankiewicz, Pawel ; Ou, Zhishu ; Chinault, A. Craig ; Beaudet, Arthur L. ; Lupski, James R. ; Cheung, Sau W. ; Ward, Patricia A.
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2007-03, Vol.2 (3), p.e327-e327
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Tjeertes, Jorrit ; Bacino, Carlos A. ; Bichell, Terry Jo ; Bird, Lynne M. ; Bustamante, Mariana ; Crean, Rebecca ; Jeste, Shafali ; Komorowski, Robert W. ; Krishnan, Michelle L. ; Miller, Meghan T. ; Nobbs, David ; Ochoa-Lubinoff, Cesar ; Parkerson, Kimberly A. ; Rotenberg, Alexander ; Sadhwani, Anjali ; Shen, Mark D. ; Squassante, Lisa ; Tan, Wen-Hann ; Vincenzi, Brenda ; Wheeler, Anne C. ; Hipp, Joerg F. ; Berry-Kravis, Elizabeth
    Publisher:England: BioMed Central
    Journal title:Journal of neurodevelopmental disorders, 2023-07, Vol.15 (1), p.22-21, Article 22
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Sadhwani, Anjali ; Powers, Sonya ; Wheeler, Anne ; Miller, Hillary ; Potter, Sarah Nelson ; Peters, Sarika U. ; Bacino, Carlos A. ; Skinner, Steven A. ; Wink, Logan K. ; Erickson, Craig A. ; Bird, Lynne M. ; Tan, Wen-Hann
    Publisher:England: BioMed Central Ltd
    Journal title:Journal of neurodevelopmental disorders, 2024-06, Vol.16 (1), p.32-15, Article 32
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Han, Julia ; Bichell, Terry Jo ; Golden, Stephanie ; Anselm, Irina ; Waisbren, Susan ; Bacino, Carlos A. ; Peters, Sarika U. ; Bird, Lynne M. ; Kimonis, Virginia
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2019-10, Vol.14 (1), p.232-232, Article 232
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Willemsen, Marjolein H ; Fernandez, Bridget A ; Bacino, Carlos A ; Gerkes, Erica ; de Brouwer, Arjan PM ; Pfundt, Rolph ; Sikkema-Raddatz, Birgit ; Scherer, Stephen W ; Marshall, Christian R ; Potocki, Lorraine ; van Bokhoven, Hans ; Kleefstra, Tjitske
    Publisher:Cham: Springer International Publishing
    Journal title:European journal of human genetics : EJHG, 2010-04, Vol.18 (4), p.429-435
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:PETERS, SARIKA U ; KAUFMANN, WALTER E ; BACINO, CARLOS A ; ANDERSON, ADAM W ; ADAPA, PAVANI ; CHU, ZILI ; YALLAMPALLI, RAGINI ; TRAIPE, ELFRIDES ; HUNTER, JILL V ; WILDE, ELISABETH A
    Publisher:Oxford, UK: Blackwell Publishing Ltd
    Journal title:Developmental medicine and child neurology, 2011-04, Vol.53 (4), p.361-367
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Moretti, Paolo ; Peters, Sarika U. ; del Gaudio, Daniela ; Sahoo, Trilochan ; Hyland, Keith ; Bottiglieri, Teodoro ; Hopkin, Robert J. ; Peach, Elizabeth ; Min, Sang Hee ; Goldman, David ; Roa, Benjamin ; Bacino, Carlos A. ; Scaglia, Fernando
    Publisher:Boston: Springer US
    Journal title:Journal of autism and developmental disorders, 2008-07, Vol.38 (6), p.1170-1177
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Campbell, Ian M. ; Rao, Mitchell ; Arredondo, Sean D. ; Lalani, Seema R. ; Xia, Zhilian ; Kang, Sung-Hae L. ; Bi, Weimin ; Breman, Amy M. ; Smith, Janice L. ; Bacino, Carlos A. ; Beaudet, Arthur L. ; Patel, Ankita ; Cheung, Sau Wai ; Lupski, James R. ; Stankiewicz, Paweł ; Ramocki, Melissa B. ; Shaw, Chad A.
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2013-09, Vol.9 (9), p.e1003797-e1003797
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Piccolo, Pasquale ; Sabatino, Valeria ; Mithbaokar, Pratibha ; Polishchuk, Elena ; Hicks, John ; Polishchuk, Roman ; Bacino, Carlos A. ; Brunetti‐Pierri, Nicola
    Publisher:United States: John Wiley & Sons, Inc
    Journal title:Molecular genetics & genomic medicine, 2019-09, Vol.7 (9), p.e844-n/a
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Savarirayan, Ravi ; Tofts, Louise ; Irving, Melita ; Wilcox, William ; Bacino, Carlos A ; Hoover-Fong, Julie ; Ullot Font, Rosendo ; Harmatz, Paul ; Rutsch, Frank ; Bober, Michael B ; Polgreen, Lynda E ; Ginebreda, Ignacio ; Mohnike, Klaus ; Charrow, Joel ; Hoernschemeyer, Daniel ; Ozono, Keiichi ; Alanay, Yasemin ; Arundel, Paul ; Kagami, Shoji ; Yasui, Natsuo ; White, Klane K ; Saal, Howard M ; Leiva-Gea, Antonio ; Luna-González, Felipe ; Mochizuki, Hiroshi ; Basel, Donald ; Porco, Dania M ; Jayaram, Kala ; Fisheleva, Elena ; Huntsman-Labed, Alice ; Day, Jonathan
    Publisher:London: Elsevier Ltd
    Journal title:The Lancet (British edition), 2020-09, Vol.396 (10252), p.684-692
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Savarirayan, Ravi ; Irving, Melita ; Bacino, Carlos A ; Bostwick, Bret ; Charrow, Joel ; Cormier-Daire, Valerie ; Le Quan Sang, Kim-Hanh ; Dickson, Patricia ; Harmatz, Paul ; Phillips, John ; Owen, Natalie ; Cherukuri, Anu ; Jayaram, Kala ; Jeha, George S ; Larimore, Kevin ; Chan, Ming-Liang ; Huntsman Labed, Alice ; Day, Jonathan ; Hoover-Fong, Julie
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2019-07, Vol.381 (1), p.25-35
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Splinter, Kimberly ; Adams, David R ; Bacino, Carlos A ; Bellen, Hugo J ; Bernstein, Jonathan A ; Cheatle-Jarvela, Alys M ; Eng, Christine M ; Esteves, Cecilia ; Gahl, William A ; Hamid, Rizwan ; Jacob, Howard J ; Kikani, Bijal ; Koeller, David M ; Kohane, Isaac S ; Lee, Brendan H ; Loscalzo, Joseph ; Luo, Xi ; McCray, Alexa T ; Metz, Thomas O ; Mulvihill, John J ; Nelson, Stanley F ; Palmer, Christina G.S ; Phillips, John A ; Pick, Leslie ; Postlethwait, John H ; Reuter, Chloe ; Shashi, Vandana ; Sweetser, David A ; Tifft, Cynthia J ; Walley, Nicole M ; Wangler, Michael F ; Westerfield, Monte ; Wheeler, Matthew T ; Wise, Anastasia L ; Worthey, Elizabeth A ; Yamamoto, Shinya ; Ashley, Euan A
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2018-11, Vol.379 (22), p.2131-2139
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Savarirayan, Ravi ; Tofts, Louise ; Irving, Melita ; Wilcox, William R. ; Bacino, Carlos A. ; Hoover-Fong, Julie ; Font, Rosendo Ullot ; Harmatz, Paul ; Rutsch, Frank ; Bober, Michael B. ; Polgreen, Lynda E. ; Ginebreda, Ignacio ; Mohnike, Klaus ; Charrow, Joel ; Hoernschemeyer, Daniel ; Ozono, Keiichi ; Alanay, Yasemin ; Arundel, Paul ; Kotani, Yumiko ; Yasui, Natsuo ; White, Klane K. ; Saal, Howard M. ; Leiva-Gea, Antonio ; Luna-González, Felipe ; Mochizuki, Hiroshi ; Basel, Donald ; Porco, Dania M. ; Jayaram, Kala ; Fisheleva, Elena ; Huntsman-Labed, Alice ; Day, Jonathan R. S.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2021-12, Vol.23 (12), p.2443-2447
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Chan, Ming Liang ; Qi, Yulan ; Larimore, Kevin ; Cherukuri, Anu ; Seid, Lori ; Jayaram, Kala ; Jeha, George ; Fisheleva, Elena ; Day, Jonathan ; Huntsman-Labed, Alice ; Savarirayan, Ravi ; Irving, Melita ; Bacino, Carlos A. ; Hoover-Fong, Julie ; Ozono, Keiichi ; Mohnike, Klaus ; Wilcox, William R. ; Horton, William A. ; Henshaw, Joshua
    Publisher:Cham: Springer International Publishing
    Journal title:Clinical pharmacokinetics, 2022-02, Vol.61 (2), p.263-280
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Eldomery, Mohammad K. ; Coban-Akdemir, Zeynep ; Harel, Tamar ; Rosenfeld, Jill A. ; Gambin, Tomasz ; Stray-Pedersen, Asbjørg ; Küry, Sébastien ; Mercier, Sandra ; Lessel, Davor ; Denecke, Jonas ; Wiszniewski, Wojciech ; Penney, Samantha ; Liu, Pengfei ; Bi, Weimin ; Lalani, Seema R. ; Schaaf, Christian P. ; Wangler, Michael F. ; Bacino, Carlos A. ; Lewis, Richard Alan ; Potocki, Lorraine ; Graham, Brett H. ; Belmont, John W. ; Scaglia, Fernando ; Orange, Jordan S. ; Jhangiani, Shalini N. ; Chiang, Theodore ; Doddapaneni, Harsha ; Hu, Jianhong ; Muzny, Donna M. ; Xia, Fan ; Beaudet, Arthur L. ; Boerwinkle, Eric ; Eng, Christine M. ; Plon, Sharon E. ; Sutton, V. Reid ; Gibbs, Richard A. ; Posey, Jennifer E. ; Yang, Yaping ; Lupski, James R.
    Publisher:England: BioMed Central
    Journal title:Genome medicine, 2017-03, Vol.9 (1), p.26-26, Article 26
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Yuan, Bo ; Wang, Lei ; Liu, Pengfei ; Shaw, Chad ; Dai, Hongzheng ; Cooper, Lance ; Zhu, Wenmiao ; Anderson, Stephanie A. ; Meng, Linyan ; Wang, Xia ; Wang, Yue ; Xia, Fan ; Xiao, Rui ; Braxton, Alicia ; Peacock, Sandra ; Schmitt, Eric ; Ward, Patricia A. ; Vetrini, Francesco ; He, Weimin ; Chiang, Theodore ; Muzny, Donna ; Gibbs, Richard A. ; Beaudet, Arthur L. ; Breman, Amy M. ; Smith, Janice ; Cheung, Sau Wai ; Bacino, Carlos A. ; Eng, Christine M. ; Yang, Yaping ; Lupski, James R. ; Bi, Weimin
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2020-10, Vol.22 (10), p.1633-1641
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Qi, Yulan ; Chan, Ming Liang ; Mould, Diane R. ; Larimore, Kevin ; Fisheleva, Elena ; Cherukuri, Anu ; Day, Jonathan ; Savarirayan, Ravi ; Irving, Melita ; Bacino, Carlos A. ; Hoover-Fong, Julie ; Ozono, Keiichi ; Mohnike, Klaus ; Wilcox, William R. ; Bober, Michael B. ; Henshaw, Joshua
    Publisher:Cham: Springer International Publishing
    Journal title:Clinical pharmacokinetics, 2024-05, Vol.63 (5), p.707-719
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
Showing 1 to 20 of 95 results