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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 11, 2016
Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disordersChristian de Goede, Wyatt W Yue, Guanhua Yan, et al.The Journal of Clinical Investigation|February 5, 2026
Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transportZeqiao Zhang, Shimiao Huang, Adam Jackson, et al.Medrxiv : the Preprint Server for Health Sciences|May 2, 2025
Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retinaJacob Sampson, Ayellet V Segrè, Kinga M Bujakowska, et al.American Journal of Medical Genetics. Part A|October 22, 2022
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathySpatikha Sitaram, Hetalika C Banka, Grace Vassallo, et al.Plos Genetics|September 19, 2025
Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neuronsSara Cuvertino, Evgenii Martirosian, Kedar Bhosale, et al.Journal of Medical Case Reports|November 21, 2008
Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case reportGregory J Fitzgibbon, Jill Clayton-Smith, Siddharth Banka, et al.European Journal of Human Genetics : EJHG|October 3, 2025
Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disordersTinatin Tkemladze, Christopher Campbell, Kakha Bregvadze, et al.Epigenomics|May 4, 2022
Comparison of methylation episignatures in <i>KMT2B</i>- and <i>KMT2D</i>-related human disordersSunwoo Lee, Eguzkine Ochoa, Katy Barwick, et al.Molecular Syndromology|October 23, 2014
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal ArthrogryposisSarah B Daly, Hitesh Shah, James O'Sullivan, et al.Journal of Leukocyte Biology|September 15, 2020
Neutrophil dysfunction triggers inflammatory bowel disease in G6PC3 deficiencyAnu Goenka, John A Doherty, Tariq Al-Farsi, et al.Pageof 17