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Nature Genetics|February 12, 2002
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear geneTamio Suzuki, Wei Li, Qing Zhang, et al.Journal of Clinical Immunology|March 1, 2014
Newborn screening for SCID in New York State: experience from the first two yearsBeth H Vogel, Vincent Bonagura, Geoffrey A Weinberg, et al.Neurogenetics|November 19, 2015
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autismLinshan Shang, Lindsay B Henderson, Megan T Cho, et al.Nature Genetics|November 28, 2018
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regionsPatricia Heyn, Clare V Logan, Adeline Fluteau, et al.American Journal of Medical Genetics. Part A|November 19, 2017
Expanding the neurodevelopmental phenotype of PURA syndromeBo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, et al.Journal of Medical Genetics|October 17, 2009
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndromeBernard Thienpont, Frédérique Béna, Jeroen Breckpot, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2007
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome regionJonathan S Berg, Nicola Brunetti-Pierri, Sarika U Peters, et al.American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.The Journal of Pediatrics|September 3, 2011
Replication of a genome-wide association study of birth weight in preterm neonatesKelli K Ryckman, Bjarke Feenstra, John R Shaffer, et al.Science Advances|February 17, 2023
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sitesNicola de Prisco, Caitlin Ford, Nathan D Elrod, et al.Pageof 4