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Genes|June 28, 2023
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and BeyondValeria Barili, Enrico Ambrosini, Vera Uliana, et al.Clinical Genetics|April 20, 2019
The clinical presentation caused by truncating CHD8 variantsSofia Douzgou, Hui Wen Liang, Kay Metcalfe, et al.European Journal of Human Genetics : EJHG|February 19, 2021
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsyZerin Hyder, Wim Van Paesschen, Ataf Sabir, et al.American Journal of Medical Genetics. Part A|January 21, 2022
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2DMylène Tharreau, Aurore Garde, Sandrine Marlin, et al.Human Genetics|March 21, 2023
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephalyFranziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, et al.Journal of Medical Genetics|December 6, 2018
Kabuki syndrome: international consensus diagnostic criteriaMargaret P Adam, Siddharth Banka, Hans T Bjornsson, et al.Human Molecular Genetics|February 14, 2015
Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumourOriol Calvete, Jose Reyes, Sheila Zuñiga, et al.European Journal of Human Genetics : EJHG|May 12, 2026
Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1Hebah O Althebaiti, James Cooksedge, Martin J Baker, et al.The British Journal of Dermatology|January 23, 2023
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defectsAdam Jackson, Celia Moss, Kate E Chandler, et al.Clinical Genetics|October 6, 2021
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defectsAlistair T Pagnamenta, Adam Jackson, Rahat Perveen, et al.Pageof 17