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Molecular Genetics & Genomic Medicine|January 12, 2019
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromasGavin R Oliver, Patrick R Blackburn, Marissa S Ellingson, et al.American Journal of Human Genetics|June 18, 2019
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal AbnormalitiesMargot A Cousin, Erin Conboy, Jian-She Wang, et al.Brain : a Journal of Neurology|February 7, 2025
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndromeKevin T A Booth, Sharayu V Jangam, Martin M C Chui, et al.Medrxiv : the Preprint Server for Health Sciences|July 17, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.EMBO Molecular Medicine|August 26, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.Human Molecular Genetics|August 8, 2023
Macrocephaly and developmental delay caused by missense variants in RAB5CKlaas Koop, Weimin Yuan, Federico Tessadori, et al.Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSarah Silverstein, Andrew D Nguyen, Rotem Orbach, et al.American Journal of Human Genetics|November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model OrganismsScott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.Blood|January 24, 2025
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying themAinsley V C Knox, Lauren Y Cominsky, Di Sun, et al.Nature Communications|September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsJana Willim, Daniel Woike, Daniel Greene, et al.Pageof 7