Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Catherine R Paschal"'
Autor:
Ting Wang, Karynne E. Patterson, Penny M Chow, Alexandra P. Lewis, Bonkowski Es, Adam Mp, Katherine M. Munson, Catherine R Paschal, Deborah A. Nickerson, Won Hee Lee, Audrey Squire, Dipple Km, Fuerte Epa, Angela Sun, Dan Doherty, Loucks H, Christina Lam, Ian A. Glass, Danny E. Miller, Dawn L. Earl, Rando Allikmets, Jenny Thies, Chang I, Beckman E, Arvis Sulovari, Evan E. Eichler, Jessica X. Chong, Perlman Sj, Nelson Z, Kendra Hoekzema, Robin L. Bennett, Anne V. Hing, Timothy J. Cherry, Megan C. Sikes, Michael J. Bamshad, Heather C Mefford, James T. Bennett
BACKGROUNDDespite widespread availability of clinical genetic testing, many individuals with suspected genetic conditions do not have a precise diagnosis. This limits their opportunity to take advantage of state-of-the-art treatments. In such instanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a407f89067548603f34498d4966528f1
https://doi.org/10.1101/2020.11.03.365395
https://doi.org/10.1101/2020.11.03.365395
Autor:
Heather A. Brandling-Bennett, Megan M. Gray, Ameet I. Thaker, Jonathan A. Perkins, Andrew M. Piacitelli, Catherine R Paschal, Dana M. Jensen, James T. Bennett, Maneesh Batra, Colin C. Pritchard, Juliane Gust, Ghayda M. Mirzaa, Karen D. Tsuchiya
Publikováno v:
American Journal of Medical Genetics Part A. 176:2301-2308
PIK3CA-related overgrowth spectrum (PROS) refers to a group of disorders of segmental overgrowth of a wide variety of tissues as well as venous and lymphatic malformations. Clinical and molecular diagnosis can be challenging due to phenotypic heterog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31f974a64826b402e2521ffc14b061f6
https://doi.org/10.1002/ajmg.a.40487
https://doi.org/10.1002/ajmg.a.40487
Publikováno v:
Journal of Pediatric Neurology. 17:118-122
We report here a 4-year-old male patient who presented with clinical features of Angelman syndrome (AS, OMIM 105830) including dysmorphic features, hypotonia, lack of language development, ataxia, severe developmental delay, and seizures. Due to insu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ad63c80494fc6ebf1a134d65d2dbd587
https://doi.org/10.1055/s-0038-1626699
https://doi.org/10.1055/s-0038-1626699