Showing results (81-90 of 161) with videos related to

Sort By:
Pageof 17
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
European Journal of Human Genetics : EJHG|June 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
HGG Advances|May 16, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexitySlavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, et al.
Brain : a Journal of Neurology|October 23, 2019
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegiaFrédéric M Vaz, John H McDermott, Mariëlle Alders, et al.
Brain : a Journal of Neurology|May 14, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutationsPedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeKatrina Tatton-Brown, Anne Murray, Sandra Hanks, et al.
Journal of Medical Genetics|April 21, 2021
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disordersLeslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
American Journal of Human Genetics|January 14, 2020
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 DeficiencyDavid B Beck, Ana Petracovici, Chongsheng He, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2020
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
Pageof 17