Suchergebnisse - Elizabeth A. Geiger

  • Treffer 1 - 13 von 13
Treffer weiter einschränken
  1. 1
    NKX2.5 Mutations in Patients With Tetralogy of Fallot

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

    Veröffentlicht 2001
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  2. 2
    NKX2.5mutations in patients with congenital heart disease

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

    Veröffentlicht 2003
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  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 von 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

    Veröffentlicht 2007
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  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 von 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

    Veröffentlicht 2015
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  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 von 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

    Veröffentlicht 2017
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  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 von 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

    Veröffentlicht 2015
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  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 von 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

    Veröffentlicht 2019
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  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 von 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

    Veröffentlicht 2013
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  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 von 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

    Veröffentlicht 2009
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  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 von 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

    Veröffentlicht 2009
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  11. 11
    Copy number variation at 1q21.1 associated with neuroblastoma

    Copy number variation at 1q21.1 associated with neuroblastoma von 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

    Veröffentlicht 2009
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  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 von 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

    Veröffentlicht 2013
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  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 von 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

    Veröffentlicht 2009
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:

Suchwerkzeuge: