Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Grace U Ediae"'
Autor:
Joseph de Nanassy, Chunyan Wang, Kristin D. Kernohan, Ruobing Zou, Gabrielle Lemire, Bryan Lo, Priya T. Bhola, Shirlee Shril, Caitlin Chisholm, Sherif El Desoky, Sarah L. Sawyer, Grace U Ediae, Jameela A. Kari, Kym M. Boycott, Bixia Zheng, Friedhelm Hildebrandt, Xueqi Wang, Mohammed Shalaby
Publikováno v:
Am J Med Genet A
WNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ddfa02391d738882cd637ce5f06c9b8
https://europepmc.org/articles/PMC8446303/
https://europepmc.org/articles/PMC8446303/
Autor:
Jennifer Tarpinian, Alberto Fernández-Jaén, Deborah A. Nickerson, Michael J. Bamshad, Kosuke Izumi, Giovanni Battista Ferrero, Emma Bedoukian, Marcello Niceta, Brendan Lee, A. Micheil Innes, Yuri A. Zarate, Katherine A. Bosanko, Annie Laquerrière, Jennifer A. Bassetti, David Mowat, Beth Keena, Carolina Galaz-Montoya, Claudia Gonzaga-Jauregui, Boris Keren, Reid Sutton, Elaine H. Zackai, James R. Lupski, Constance F. Wells, Francesca Clementina Radio, Natalie Hauser, Dong Li, Grace U Ediae, Marco Tartaglia, Xiang-Jiao Yang, Para Chottil Soumya, Elizabeth J. Bhoj, Christine Coubes, Kinattinkara R. Subbaraman, Alain Verloes, Klaus Dieterich, John C. Carey, Mary K. Kukolich, Francisco Cammarata-Scalisi, Alper Gezdirici, Jessica X. Chong, Sirinart Molidperee, Amelle Shillington, Sarah L. Sawyer, David S. Liu, Ana Bracho, Li Xin Zhang, Richard A. Gibbs, Sheela Nampoothiri, Ingrid A. Holm, Philip M. Boone, Alyssa Ritter, Charlotte Dubucs, Philippe M. Campeau, Gabrielle Lemire, Maria Lisa Dentici, Jacqueline Aziza, Frank J. Probst, Karippoth Mohandas Nair, Millan S. Patel, Chester W. Brown
Publikováno v:
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Genet Med
Universidad Europea (UEM)
Genet Med
Purpose :Genitopatellar syndrome and Say–Barber–Biesecker–Young–Simpson syndrome are caused by variants in the KAT6B gene and are part of a broad clinical spectrum called KAT6B disorders, whose variable expressivity is increasingly being reco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cde38b83a56781321203d0daead97aba
http://hdl.handle.net/11268/10899
http://hdl.handle.net/11268/10899
Autor:
O. Carter Snead, David A. Dyment, Grace U Ediae, Lysa Boissé Lomax, Katherine Muir, Taila Hartley, Asuri N. Prasad, Murray A. Potter, Bekim Sadikovic, Dimitri J. Stavropoulos, Kym M. Boycott, Ayman Hassan, Olga Jarinova
Publikováno v:
Paediatrics Publications
Epilepsy is a common neurological condition that shows a marked genetic predisposition. The advent of next-generation sequencing (NGS) has transformed clinical genetic testing by allowing the rapid screen for causative variants in multiple genes. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc010bd2adefbcef712270272dfd27bd
https://pubmed.ncbi.nlm.nih.gov/31587668
https://pubmed.ncbi.nlm.nih.gov/31587668
