Showing results (31-40 of 53) with videos related to
Sort By:
Pageof 6
European Journal of Human Genetics : EJHG|July 7, 2019
Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasiaTheresa Mihalic Mosher, Deborah A Zygmunt, Daniel C Koboldt, et al.Rheumatology (Oxford, England)|April 12, 2022
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variantKelsey Lecerf, Daniel C Koboldt, Hye Sun Kuehn, et al.Journal of Clinical Immunology|January 17, 2023
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic DevelopmentPeter J Mustillo, Kathleen E Sullivan, Ivan K Chinn, et al.HGG Advances|April 11, 2026
Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye SyndromeAnushree Acharya, Irma Järvelä, Andrea Hernandez, et al.Brain : a Journal of Neurology|July 8, 2022
Cerebral organoids containing an AUTS2 missense variant model microcephalySummer R Fair, Wesley Schwind, Dominic L Julian, et al.Plastic and Reconstructive Surgery. Global Open|May 5, 2025
Standardized Classification of Infants With Robin Sequence Using MicroNAPS: The Impact of Syndromes and ComorbiditiesCory M Resnick, Jody E Heffernan, Snigdha Jindal, et al.Brain : a Journal of Neurology|May 30, 2023
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya diseaseAmélie Pinard, Wenlei Ye, Stuart M Fraser, et al.Genes|August 27, 2021
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG CriteriaPleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, et al.American Journal of Human Genetics|October 4, 2016
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Loren D M Pena, Katherine Kim, et al.American Journal of Medical Genetics. Part A|May 3, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related PhenotypeEsin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi, et al.Pageof 6