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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 30, 2023. (Total: 223474Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Intellectual Disability and ASMT[original query]
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.
BMC medical genetics 2011 1 12 17.
Pagan Cecile, Botros Hany Goubran, Poirier Karine, Dumaine Anne, Jamain Stéphane, Moreno Sarah, de Brouwer Arjan, Van Esch Hilde, Delorme Richard, Launay Jean-Marie, Tzschach Andreas, Kalscheuer Vera, Lacombe Didier, Briault Sylvain, Laumonnier Frédéric, Raynaud Martine, van Bon Bregje W, Willemsen Marjolein H, Leboyer Marion, Chelly Jamel, Bourgeron Thom
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
BMC medical genetics 2018 3 19 (1): 46.
Prasad Aparna, Sdano Matthew A, Vanzo Rena J, Mowery-Rushton Patricia A, Serrano Moises A, Hensel Charles H, Wassman E Robe
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