检索结果 - Elizabeth A. Geiger

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  1. 1
    NKX2.5 Mutations in Patients With Tetralogy of Fallot

    NKX2.5 Mutations in Patients With Tetralogy of Fallot 由 Elizabeth Goldmuntz, Elizabeth A. Geiger, D. Woodrow Benson

    出版 2001
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  2. 2
    NKX2.5mutations in patients with congenital heart disease

    NKX2.5mutations in patients with congenital heart disease 由 Doff B. McElhinney, Elizabeth A. Geiger, Joshua J. Blinder, D. Woodrow Benson, Elizabeth Goldmuntz

    出版 2003
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  3. 3
    Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms

    Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms 由 Tamim H. Shaikh, Ronald J. O’Connor, Mary Ella Pierpont, James McGrath, April M. Hacker, Manjunath Nimmakayalu, Elizabeth A. Geiger, Beverly S. Emanuel, Sulagna C. Saitta

    出版 2007
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  4. 4
    Kabuki syndrome genes<i>KMT2D</i>and<i>KDM6A</i>: functional analyses demonstrate critical roles in craniofacial, heart and brain development

    Kabuki syndrome genes<i>KMT2D</i>and<i>KDM6A</i>: functional analyses demonstrate critical roles in craniofacial, heart and brain development 由 Peter M. Van Laarhoven, Leif R. Neitzel, Anita M. Quintana, Elizabeth A. Geiger, Elaine H. Zackai, David E. Clouthier, Kristin Artinger, Jeffrey E. Ming, Tamim H. Shaikh

    出版 2015
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  5. 5
    Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

    Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities 由 Anita M. Quintana, Hung‐Chun Yu, Alison Brebner, Mihaela Pupavac, Elizabeth A. Geiger, Abigail Watson, Victoria L. Castro, Warren Cheung, Shu‐Huang Chen, David Watkins, Tomi Pastinen, Flemming Skovby, Bruce Appel, David S. Rosenblatt, Tamim H. Shaikh

    出版 2017
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  6. 6
    Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder

    Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder 由 Curtis R. Coughlin, Gunter Scharer, Marisa W. Friederich, Hung‐Chun Yu, Elizabeth A. Geiger, Geralyn Creadon‐Swindell, Abigail E. Collins, Arnaud Vanlander, Rudy Van Coster, Christopher A. Powell, Michael A. Swanson, Michal Minczuk, Johan L.K. Van Hove, Tamim H. Shaikh

    出版 2015
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  7. 7
    The 22q11 low copy repeats are characterized by unprecedented size and structural variability

    The 22q11 low copy repeats are characterized by unprecedented size and structural variability 由 Wolfram Demaerel, Yulia Mostovoy, Feyza Yilmaz, Lisanne Vervoort, Steven Pastor, Matthew S. Hestand, Ann Swillen, Elfi Vergaelen, Elizabeth A. Geiger, Curtis R. Coughlin, Stephen K. Chow, Donna M. McDonald‐McGinn, Bernice E. Morrow, Pui‐Yan Kwok, Ming Xiao, Beverly S. Emanuel, Tamim H. Shaikh, Joris Vermeesch

    出版 2019
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  8. 8
    An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

    An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 由 Hung‐Chun Yu, Jennifer L. Sloan, Gunter Scharer, Alison Brebner, Anita M. Quintana, Nathan P. Achilly, Irini Manoli, Curtis R. Coughlin, Elizabeth A. Geiger, Una Schneck, David Watkins, Terttu Suormala, Johan L.K. Van Hove, Brian Fowler, Matthias R. Baumgartner, David S. Rosenblatt, Charles P. Venditti, Tamim H. Shaikh

    出版 2013
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  9. 9
    Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

    Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes 由 Josephine Elia, Xiaowu Gai, Hongbo Xie, Juan C. Perín, Elizabeth A. Geiger, Joseph Glessner, Monica D’Arcy, Rachel deBerardinis, Edward C. Frackelton, C. Kim, Francesca Lantieri, B M Muganga, L. Wang, Toshinobu Takeda, Eric Rappaport, Struan F.A. Grant, Wade H. Berrettini, Marcella Devoto, Tamim H. Shaikh, Hákon Hákonarson, Peter S. White

    出版 2009
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  10. 10
    Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

    Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region 由 Justine Coppinger, Donna M. McDonald‐McGinn, E. Zackai, Kate Shane-Carson, Joan Atkin, Alexander Asamoah, R. Leland, David D. Weaver, Susan Lansky-Shafer, Karen Schmidt, Heidi M. Feldman, William Cohen, Judith Phalin, Berkley R. Powell, B. C. Ballif, Aaron Theisen, Elizabeth A. Geiger, Chad R. Haldeman‐Englert, Tamim H. Shaikh, Sulagna C. Saitta, B.A. Bejjani, L.G. Shaffer

    出版 2009
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  11. 11
    Copy number variation at 1q21.1 associated with neuroblastoma

    Copy number variation at 1q21.1 associated with neuroblastoma 由 Sharon J. Diskin, Cuiping Hou, Joseph Glessner, Edward F. Attiyeh, Marci Laudenslager, Kristopher R. Bosse, Kristina A. Cole, Yaël P. Mossé, Andrew Wood, Jill E. Lynch, Katlyn Pecor, Maura Diamond, Cynthia Winter, Kai Wang, Cecilia Kim, Elizabeth A. Geiger, Patrick McGrady, Alexandra I. F. Blakemore, Wendy B. London, Tamim H. Shaikh, Jonathan P. Bradfield, Struan F.A. Grant, Hongzhe Li, Marcella Devoto, Eric Rappaport, Hákon Hákonarson, John M. Maris

    出版 2009
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  12. 12
    Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

    Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 由 Peter R. Baker, Marisa W. Friederich, Michael A. Swanson, Tamim H. Shaikh, Kaustuv Bhattacharya, Gunter Scharer, Joseph K. Aicher, Geralyn Creadon‐Swindell, Elizabeth A. Geiger, Kenneth N. Maclean, Wang‐Tso Lee, Charu Deshpande, Mary-Louise Freckmann, Ling-Yu Shih, Melissa Wasserstein, Malene Bøgehus Rasmussen, Allan M. Lund, Peter Procopis, Jessie M. Cameron, Brian H. Robinson, Garry K. Brown, Ruth M. Brown, Alison G. Compton, Carol L. Dieckmann, Renata Collard, Curtis R. Coughlin, Elaine Spector, Michael F. Wempe, Johan L.K. Van Hove

    出版 2013
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  13. 13
    High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

    High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications 由 Tamim H. Shaikh, Xiaowu Gai, Juan C. Perín, Joseph Glessner, Hongbo Xie, Kevin J. Murphy, Ryan O'Hara, Tracy Casalunovo, Laura K. Conlin, Monica D’Arcy, Edward C. Frackelton, Elizabeth A. Geiger, Chad R. Haldeman‐Englert, Marcin Imieliński, Chong Ae Kim, Līvija Medne, Kiran Annaiah, Jonathan P. Bradfield, Elvira Dabaghyan, Andrew W. Eckert, Chioma C. Onyiah, Svetlana Ostapenko, F. George Otieno, Erin Santa, Julie L. Shaner, Robert Skraban, Ryan M. Smith, Josephine Elia, Elizabeth Goldmuntz, Nancy B. Spinner, Elaine H. Zackai, Rosetta Chiavacci, Robert W. Grundmeier, Eric Rappaport, Struan F.A. Grant, Peter S. White, Hákon Hákonarson

    出版 2009
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