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Research Report (Health Effects Institute)|August 23, 2003
Biomarkers in Czech workers exposed to 1,3-butadiene: a transitional epidemiologic studyRichard J Albertini, Radim J Srám, Pamela M Vacek, et al.
Human Molecular Genetics|January 31, 2015
Mosaic structural variation in children with developmental disordersDaniel A King, Wendy D Jones, Yanick J Crow, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
JCO Precision Oncology|June 23, 2022
RAD51B Harbors Germline Mutations Associated With Pancreatic Ductal AdenocarcinomaFanfan Xie, Ding Ding, Cong Lin, et al.
Genome Research|October 13, 2009
The NIH Human Microbiome Project, Jane Peterson, Susan Garges, et al.
Science (New York, N.Y.)|November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disordersHilary C Martin, Wendy D Jones, Rebecca McIntyre, et al.
European Journal of Human Genetics : EJHG|February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosisSonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
Brain : a Journal of Neurology|July 12, 2023
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypesMaria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, et al.
American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
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