Human Genetics

Human Genetics Journal

Publication venue for

Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. 138:1259-1266. 2019
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. 135:699-705. 2016
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. 131:145-156. 2012

International Standard Serial Number (ISSN)

0340-6717