Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Bianca Russell"'
Autor:
Bianca Russell, Julia Sloan, Hiroki Nariai, Natasha Ludwig, Abigail Dickinson, Zain Awamleh, Rosanna Weksberg, Isabella Lin, Valerie Arboleda, Wen-Hann Tan
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101089- (2024)
Externí odkaz:
https://doaj.org/article/1da6445c0a7b409ab2ee5628e18d2984
Autor:
Thomas Minten, Sophia Adelson, Laura Amendola, David Bick, François Boemer, Alison Coffey, Nicolas Encina, Bianca Russell, Laurent Servais, Kristen Sund, Ryan Taft, Robert Green, Nina Gold
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101110- (2024)
Externí odkaz:
https://doaj.org/article/166dd47d6d89482494cd202938776769
Autor:
Nicole Weaver, Amy Shikany, Emile Vieta, Bianca Russell, Bruce Lerman, Alanna Strong, Dong Li
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100378- (2023)
Externí odkaz:
https://doaj.org/article/06718b25e8e8493bbf38f19ed8018de3
Autor:
Fabiola Quintero-Rivera, Yulia Mostovoy, Philip Boone, Steve Huang, Kiran Garimella, Julian Martinez-Agosto, Bianca Russell, Tera Bowers, Tim De Smet, Stacey Gabriel, James Gusella, Harrison Brand, Michael Talkowski
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100460- (2023)
Externí odkaz:
https://doaj.org/article/69a2f785a8d3465cb5b9927b924d7535
Autor:
Jon Steller, Bianca Russell, Shahram Lotfipour,, Graciela Maldonado, Tim Siepel, Halsey Jakle, Stacy Hata, Alan Chiem, John Christian Fox
Publikováno v:
Western Journal of Emergency Medicine, Vol 15, Iss 3, Pp 260-266 (2014)
Introduction: The Ultrasound Screening Exam for Underlying Lesions (USEFUL) was developed in an attempt to establish a role for bedside ultrasound in the primary and preventive care setting. It is the purpose of our pilot study to determine if studen
Externí odkaz:
https://doaj.org/article/0f58e808e3fd46d693f37dd443220b28
Autor:
Payam Mohassel, Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort, Dimah Saade, B. Jeanne Billioux, Brooke Meader, Rita Volochayev, Chamindra G. Konersman, Angela M. Kaindl, Chie-Hee Cho, Bianca Russell, Adrian Rodriguez, K. Wade Foster, A. Reghan Foley, Steven A. Moore, Peter L. Jones, Carsten G. Bonnemann, Takako Jones, Natalie D. Shaw
Publikováno v:
Neurology. 98:e1384-e1396
Background and ObjectivesFacioscapulohumeral muscular dystrophy type 2 (FSHD2) and arhinia are 2 distinct disorders caused by pathogenic variants in the same gene: SMCHD1. The mechanism underlying this phenotypic divergence remains unclear. In this s
Autor:
Isabella Lin, Zain Awamleh, Angela Wei, Bianca Russell, Rosanna Weksberg, Valerie A. Arboleda
De novo, truncating variants ofASXL1cause two distinct disorders: Bohring-Opitz Syndrome (BOS, OMIM #605039) a rare pediatric disorder characterized by multiorgan anomalies that disrupt normal brain, heart, and bone development causing severe intelle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a87483c40d42d72696873c9ce95b7a45
https://doi.org/10.1101/2022.12.15.519823
https://doi.org/10.1101/2022.12.15.519823
Autor:
Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera, Bianca Russell, Rosanna Weksberg, Valerie A. Arboleda
ASXL1(Additional sex combs-like 1) plays key roles in epigenetic regulation of early developmental gene expression.De novotruncating mutations inASXL1cause Bohring-Opitz syndrome (BOS, OMIM #605039), a rare neurodevelopmental condition characterized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e458c6bf9a9708a43454c9984c2c0778
https://doi.org/10.1101/2022.12.15.520167
https://doi.org/10.1101/2022.12.15.520167
Myocardin-Related Transcription Factor B (MRTFB) is an important transcriptional regulator which promotes the activity of an estimated 300 genes during different stages of development. Here we report two pediatric probands withde novovariants inMRTFB
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e57c35936e3a6e19471c05bae06eb6fd
https://doi.org/10.1101/2022.12.06.518921
https://doi.org/10.1101/2022.12.06.518921
Publikováno v:
Journal of the Endocrine Society. 6:A598-A599
Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that leads to the disruption of adrenal steroidogenesis. 21-hydroxylase deficiency is the most common form and is caused by the mutations in the 21-hydroxylase (CYP21A