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American Journal of Medical Genetics. Part A|February 17, 2021
Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14Valerie Lindgren, Katherine Cobian, Gifty BhatPediatric Dermatology|February 22, 2022
Identification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome highlights potential pitfalls of molecular testingAllison Kirchner, Isabelle M Sanchez, Alice Zalan, et al.European Journal of Medical Genetics|May 31, 2016
Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorderGifty Bhat, Danielle LaGrave, Alison Millson, et al.Personalized Medicine|May 17, 2018
Chromosomal microarray in prenatal diagnosis: case studies and clinical challengesKarla Leavitt, Tamar Goldwaser, Gifty Bhat, et al.Human Genome Variation|December 10, 2020
A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratomaSaba Ahmad, Luis Manon, Gifty Bhat, et al.Molecular Genetics and Metabolism|May 25, 2011
Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncoveredAreeg H El-Gharbawy, Gifty Bhat, Jaime E Murillo, et al.Annals of Neurology|May 1, 2016
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thriveMaha S Zaki, Gifty Bhat, Tipu Sultan, et al.Journal of Medical Genetics|June 20, 2017
A homozygous founder mutation in <i>TRAPPC6B</i> associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic featuresIsaac Marin-Valencia, Gaia Novarino, Anide Johansen, et al.Journal of Medical Genetics|March 11, 2017
Homozygous mutation in <i>NUP107</i> leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndromeRasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, et al.Human Molecular Genetics|January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrumEunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.Pageof 2