Resultados de procura - David D. Weaver

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  1. 1
    Partial urorectal septum malformation sequence: A report of 25 cases

    Partial urorectal septum malformation sequence: A report of 25 cases por Patricia G. Wheeler, David D. Weaver

    Publicado 2001
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  2. 2
    Axial mesodermal dysplasia spectrum

    Axial mesodermal dysplasia spectrum por Laura Russell, David D. Weaver, Marilyn J. Bull

    Publicado 2020
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  3. 3
    49,XXXXY: a distinct phenotype. Three new cases and review.

    49,XXXXY: a distinct phenotype. Three new cases and review. por J Peet, David D. Weaver, Gail H. Vance

    Publicado 1998
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  4. 4
    Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

    Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia por Fatima Abidi, Lynda Holloway, C. A. Moore, David D. Weaver, Richard J. Simensen, Roger E. Stevenson, R. Curtis Rogers, Charles E. Schwartz

    Publicado 2008
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  5. 5
    Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism

    Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism por April Hall, Holli M. Drendel, Jennifer Verbrugge, Angela Reese, Katherine L. Schumacher, Christopher B. Griffith, David D. Weaver, Mary Pell Abernathy, Christian Litton, Gail H. Vance

    Publicado 2013
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  6. 6
    Mutations in EZH2 Cause Weaver Syndrome

    Mutations in EZH2 Cause Weaver Syndrome por William T. Gibson, Rebecca L. Hood, Shing H. Zhan, Dennis E. Bulman, Anthony P. Fejes, Richard A. Moore, Andrew J. Mungall, Patrice Eydoux, Riyana Babul‐Hirji, Jianghong An, Marco A. Marra, David Chitayat, Kym M. Boycott, David D. Weaver, Steven J.M. Jones

    Publicado 2011
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  7. 7
    Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

    Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro por Ana S.A. Cohen, Damian Yap, M. E. Suzanne Lewis, Chieko Chijiwa, María A. Ramos‐Arroyo, Natália Tkachenko, Valentina Milano, Mélanie Fradin, Margaret L. McKinnon, Katelin N. Townsend, Jieqing Xu, M. I. Van Allen, Colin J.D. Ross, William B. Dobyns, David D. Weaver, William T. Gibson

    Publicado 2015
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  8. 8
    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 por 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

    Publicado 2009
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  9. 9
    Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia

    Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia por Christopher T. Gordon, K. Nicole Weaver, Roseli Maria Zechi‐Ceide, Erik Madsen, André L. P. Tavares, Myriam Oufadem, Yukiko Kurihara, Igor Adameyko, Arnaud Picard, Sylvain Breton, S. Pierrot, Martin Biosse Duplan, Norine Voisin, Cécile Masson, Christine Bôle‐Feysot, Patrick Nitschké, Marie-Ange Delrue, Didier Lacombe, Maria Leine Guion‐Almeida, Priscila Padilha Moura, Daniela Gamba Garib, Arnold Münnich, Patrik Ernfors, Robert B. Hufnagel, Robert J. Hopkin, Hiroki Kurihara, Howard M. Saal, David D. Weaver, Nicholas Katsanis, Stanislas Lyonnet, Christelle Golzio, David E. Clouthier, Jeanne Amiel

    Publicado 2015
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  10. 10
    Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

    Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 por Margaret J. McMillin, Anita Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi Gildersleeve, Mariana Aracena, Arthur S. Aylsworth, Pierre Bitoun, John C. Carey, Carol L. Clericuzio, Yanick J. Crow, Cynthia J. Curry, Koenraad Devriendt, David B. Everman, Alan Fryer, Kate Gibson, Maria Luisa Giovannucci Uzielli, John M. Graham, Judith G. Hall, Jacqueline T. Hecht, Randall A. Heidenreich, Jane A. Hurst, Sarosh R. Irani, Ingrid P.C. Krapels, Jules G. Leroy, David Mowat, Gordon T. Plant, Stephen P. Robertson, Elizabeth K. Schorry, Richard H. Scott, Laurie H. Seaver, Elliott H. Sherr, Miranda Splitt, Helen Stewart, Constance T. R. M. Stumpel, Şehime Gülsün Temel, David D. Weaver, Margo Whiteford, Marc S. Williams, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

    Publicado 2014
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  11. 11
    A dyadic approach to the delineation of diagnostic entities in clinical genomics

    A dyadic approach to the delineation of diagnostic entities in clinical genomics por Leslie G. Biesecker, Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Hon‐Yin Chung, Robin D. Clark, Timothy C. Cox, Cynthia J. Curry, Mary Beth Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian Glass, John M. Graham, Karen W. Gripp, Chad R. Haldeman‐Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler‐Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda Mirzaa, John J. Mulvihill, Małgorzata J.M. Nowaczyk, Roberta A Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez‐Lara, Laurie H. Seaver, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen‐Hann Tan, Anne Chun‐Hui Tsai, David D. Weaver, Marc S. Williams, Elaine H. Zackai, Yuri A. Zárate

    Publicado 2021
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  12. 12
    A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay por Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane McCarthy, Carl Baker, Heather C. Mefford, Jeffrey M. Kidd, Sharon R. Browning, Brian L. Browning, Diane E. Dickel, Deborah L. Levy, Blake C. Ballif, Kathryn Platky, Darren Farber, Gordon C. Gowans, Jessica J Wetherbee, Alexander Asamoah, David D. Weaver, Paul R. Mark, Jennifer A. Dickerson, Bhuwan P. Garg, Sara Ellingwood, Rosemarie Smith, Valerie Banks, Wendy E. Smith, Marie McDonald, Joe J. Hoo, Beatrice N. French, Cindy Hudson, John P. Johnson, Jillian R. Ozmore, John B. Moeschler, Urvashi Surti, Luis Escobar, Dima El‐Khechen, Jerome L. Gorski, Jennifer Kussmann, Bonnie Anne Salbert, Yves Lacassie, Alisha Biser, Donna M. McDonald‐McGinn, Elaine H. Zackai, Matthew A. Deardorff, Tamim H. Shaikh, Eric Haan, Kathryn Friend, Marco Fichera, Corrado Romano, Jozef Gécz, Lynn E. DeLisi, Jonathan Sebat, Mary‐Claire King, Lisa G. Shaffer, Evan E. Eichler

    Publicado 2010
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  13. 13
    Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

    Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis... por Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Uhas, Linlea Armstrong, Katherine A. Bosanko, Dusica Babovic‐Vuksanovic, Laura Baker, Donald Basel, Mario Bengala, James T. Bennett, Chelsea Chambers, L. Kate Clarkson, Maurizio Clementi, Fanny Cortés, Mitch Cunningham, Daniela D’Agostino, Martin B. Delatycki, M. Cristina Digilio, Laura Dosa, Silvia Esposito, Stéphanie Fox, Mary‐Louise Freckmann, Christine Fauth, Teresa Giugliano, Sandra Giustini, Allison L. Goetsch, Yael Goldberg, Robert Greenwood, Cristin Griffis, Karen W. Gripp, Punita Gupta, Eric Haan, Rachel K. Hachen, Tamara L. Haygarth, Concepción Hernández‐Chico, Katelyn Hodge, Robert J. Hopkin, Louanne Hudgins, Sandra Janssens, Kory Keller, Geraldine Kelly‐Mancuso, Aaina Kochhar, Bruce R. Korf, Andrea M. Lewis, Jan Liebelt, Angie Lichty, Robert Listernick, Michael J. Lyons, Isabelle Maystadt, Mayra Martinez Ojeda, Carey McDougall, Lesley McGregor, Daniela Melis, Nancy J. Mendelsohn, Małgorzata J.M. Nowaczyk, June Ortenberg, Karin Panzer, John Pappas, Mary Ella Pierpont, Giulio Piluso, Valentina Pinna, Enikö K. Pivnick, Dinel Pond, Cynthia M. Powell, Caleb Rogers, Noa Ruhrman‐Shahar, S. Lane Rutledge, Veronica Saletti, Sarah A. Sandaradura, Claudia Santoro, Ulrich A. Schatz, Allison Schreiber, Daryl A. Scott, Elizabeth A. Sellars, Ruth Sheffer, Elizabeth Siqveland, John M. Slopis, Rosemarie Smith, Alberto Spalice, David W. Stockton, Haley Streff, Amy Theos, Gail E. Tomlinson, Grace Tran, Pamela Trapane, Eva Trevisson, Nicole J. Ullrich, Jenneke van den Ende, Samantha A. Schrier Vergano, Stephanie E Wallace, Michael F. Wangler, David D. Weaver, Kaleb Yohay, Elaine H. Zackai, Jonathan Zonana

    Publicado 2019
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