Showing results (11-20 of 61) with videos related to

Sort By:
Pageof 7
Clinical Genetics|May 8, 2024
FGF12 copy number variant associated with epileptic encephalopathyAnna Abraham, Keri Ramsey, Newell Belnap, et al.
Human Mutation|October 30, 2019
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegiaCarmel G McCullough, Szabolcs Szelinger, Newell Belnap, et al.
The Journal of Biological Chemistry|June 16, 2009
Scavenger chemokine (CXC motif) receptor 7 (CXCR7) is a direct target gene of HIC1 (hypermethylated in cancer 1)Capucine Van Rechem, Brian R Rood, Majid Touka, et al.
Cold Spring Harbor Molecular Case Studies|June 7, 2019
Clinical and genetic characterization of individuals with predicted deleterious <i>PHIP</i> variantsKirsten E Craddock, Volkan Okur, Ashley Wilson, et al.
International Journal of Molecular Sciences|November 27, 2024
Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the <i>DMD</i> GeneWayne M Jepsen, Andrew Fazenbaker, Keri Ramsey, et al.
Genes|August 28, 2025
Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) SyndromesKeri Ramsey, Supraja Prakash, Jennifer Kerkhof, et al.
Clinical Genetics|October 17, 2022
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cordParith Wongkittichote, Tae-Ik Choi, Oc-Hee Kim, et al.
Seminars in Pediatric Neurology|July 3, 2018
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test resultsBrittany Gerald, Keri Ramsey, Newell Belnap, et al.
Rare (Amsterdam, Netherlands)|May 21, 2024
Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel <i>SMS</i> gene variantMegumi Leung, Meredith Sanchez-Castillo, Newell Belnap, et al.
Plos One|July 16, 2015
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy SyndromeIsabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, et al.
Pageof 7