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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|February 8, 2024
Personal journeys to and in human genetics and dysmorphologyCharles E Schwartz, Arthur S Aylsworth, Judith Allanson, et al.European Journal of Medical Genetics|November 22, 2022
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathwayJulian Delanne, Magaly Lecat, Patrick R Blackburn, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 femalesD L Polla, E J Bhoj, J B G M Verheij, et al.Translational Psychiatry|October 1, 2022
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8Alexander J M Dingemans, Kim M G Truijen, Sam van de Ven, et al.Nature Communications|November 5, 2022
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidyLaura J Grange, John J Reynolds, Farid Ullah, et al.Journal of Medical Genetics|November 4, 2017
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literatureMargot R F Reijnders, Robert Janowski, Mohsan Alvi, et al.American Journal of Human Genetics|August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeJung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.Nature Communications|May 4, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.Nature Communications|February 17, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.Pageof 7