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Biological Psychiatry. Cognitive Neuroscience and Neuroimaging|April 27, 2025
Presence, severity, and functional associations of incomplete hippocampal inversion in 22q11.2 deletion syndromeDavid Roalf, Ally Atkins, Adam Czernuszenko, et al.European Journal of Medical Genetics|November 26, 2018
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromesElizabeth J Bhoj, Damien Haye, Annick Toutain, et al.American Journal of Medical Genetics. Part A|July 21, 2004
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndromeDouglas R Stewart, Alina Huang, Francesca Faravelli, et al.European Journal of Human Genetics : EJHG|October 4, 2012
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin AEyal Reinstein, Sophia Frentz, Tim Morgan, et al.Journal of Neurodevelopmental Disorders|June 25, 2024
Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disordersDavid R Roalf, Donna M McDonald-McGinn, Joelle Jee, et al.Nature Biotechnology|April 12, 2016
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseasesRong Chen, Lisong Shi, Jörg Hakenberg, et al.Journal of Medical Genetics|October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patientsMarcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.American Journal of Medical Genetics. Part A|October 13, 2006
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformationNathaniel H Robin, Clare J Taylor, Donna M McDonald-McGinn, et al.Nature Cell Biology|June 16, 2025
ZNF280A links DNA double-strand break repair to human 22q11.2 distal deletion syndromeThomas L Clarke, Hyo Min Cho, Ilaria Ceppi, et al.American Journal of Medical Genetics. Part A|November 21, 2012
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networksMauro Longoni, Kasper Lage, Meaghan K Russell, et al.Pageof 63