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Human Genomics|September 18, 2010
An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) geneDavid S Millar, Carolyn Tysoe, Lazarus P Lazarou, et al.American Journal of Medical Genetics. Part A|July 28, 2017
Autopsy findings in EPG5-related Vici syndrome with antenatal onsetRenaud Touraine, Annie Laquerrière, Carmen-Adina Petcu, et al.Metabolism: Clinical and Experimental|May 20, 2017
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)Sahar Elouej, Ana Beleza-Meireles, Richard Caswell, et al.Epilepsy Research|January 26, 2018
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndromeKenneth A Myers, Susan M White, Shehla Mohammed, et al.The Journal of Clinical Investigation|September 9, 2025
TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophyYuka Nakazawa, Lin Ye, Yasuyoshi Oka, et al.American Journal of Medical Genetics. Part A|March 10, 2009
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairmentDianne F Newbury, Pamela C Warburton, Natalie Wilson, et al.The Journal of Clinical Investigation|April 21, 2015
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenitaHemanth Tummala, Amanda Walne, Laura Collopy, et al.Journal of the American Society of Nephrology : JASN|September 24, 2016
Risk Factors for Severe Renal Disease in Bardet-Biedl SyndromeElizabeth Forsythe, Kathryn Sparks, Sunayna Best, et al.Frontiers in Neuroscience|April 10, 2025
Clinical and molecular overlap between nucleotide excision repair (NER) disorders and <i>DYRK1A</i> haploinsufficiency syndromeNicolas Le May, Jérémie Courraud, Imène Boujelbène, et al.Orphanet Journal of Rare Diseases|January 24, 2012
Clinical expression of Menkes disease in females with normal karyotypeLisbeth Birk Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, et al.Pageof 6