Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Cohen Syndrome[original query] |
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Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome. Journal of molecular neuroscience : MN 2020 3 70 (8): 1225-1228. Kaushik Pankhuri, Mahajan Naresh, Girimaji Satish C, Kumar Ar |
Quantitative trait locus analysis for endophenotypes reveals genetic substrates of core symptom domains and neurocognitive function in autism spectrum disorder. Translational psychiatry 2022 9 12 (1): 407. Lee In-Hee, Koelliker Ekaterina, Kong Sek W |
- Page last reviewed:Feb 1, 2024
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