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UnknownDe Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Not available
S-EPMC5673671 | biostudies-literature
UnknownPrevalence and architecture of de novo mutations in developmental disorders.
Not available
S-EPMC6016744 | biostudies-literature
UnknownAn autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Not available
S-EPMC8026396 | biostudies-literature
UnknownCHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Not available
S-EPMC6218476 | biostudies-literature
UnknownCross-country variance in facial emotion recognition in presymptomatic and symptomatic behavioral variant frontotemporal dementia: Insights from the GENFI and ReDLat consortia.
Not available
S-EPMC12519523 | biostudies-literature
UnknownEvidence for 28 genetic disorders discovered by combining healthcare and research data.
Not available
S-EPMC7116826 | biostudies-literature
GenomicsEPIGEN-Brasil Data Access Committee
Data Access Committee EGAC00001000330
EGAC00001000330 | EGA
GenomicsNational Cancer Institute Genome-Wide Association Study of Renal Cell Carcinoma

The National Cancer Institute (NCI) genome-wide association study (GWAS) of renal cell carcinoma (RCC) was conducted to investigate common genetic variants associated with RCC risk. The GWAS includes 1,453 RCC cases and 3,531 controls of European background from 4 studies (3 cohort, 1 case-con...

phs000351.v1.p1 | EGA
UnknownEffects of eight neuropsychiatric copy number variants on human brain structure.
Not available
S-EPMC8292542 | biostudies-literature
UnknownHeterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Not available
S-EPMC6556837 | biostudies-literature
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