Showing results (1-10 of 10) with videos related to
Sort By:
Pageof 1
Computers, Informatics, Nursing : CIN|February 12, 2026
Digital Transformation in Clinical Genetics: A Concept AnalysisKelly Bontempo, Kevin S Hughes, Diana Ivankovic, et al.American Journal of Medical Genetics. Part A|August 31, 2018
Further delineation of Aymé-Gripp syndrome and use of automated facial analysis toolShivarajan M Amudhavalli, Randi Hanson, Brad Angle, et al.Clinical Genetics|March 20, 2026
Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome)Carolina I Galaz-Montoya, Sara A Lewis, Maureen K Galindo, et al.American Journal of Human Genetics|July 6, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomaliesGabrielle Lemire, Aren E Marshall, Tejan S Patel, et al.Prenatal Diagnosis|June 1, 2020
Evaluation and classification of severity for 176 genes on an expanded carrier screening panelAishwarya Arjunan, Holly Bellerose, Raul Torres, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2019
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?Whitney L Wooderchak-Donahue, Gulsen Akay, Kevin Whitehead, et al.Journal of Medical Genetics|March 11, 2020
Pathogenic variants in <i>TNRC6B</i> cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHDJorge Luis Granadillo, Alexander P A Stegmann, Hui Guo, et al.Research Square|October 16, 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionDavid Picketts, Ghayda Mirzaa, Keqin Yan, et al.Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.Pageof 1