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UnknownHuman KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
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S-EPMC9236882 | biostudies-literature
UnknownDe Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
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S-EPMC6216110 | biostudies-literature
UnknownPURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
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S-EPMC8592566 | biostudies-literature
UnknownHistone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
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S-EPMC7821880 | biostudies-literature
UnknownIdentification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
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S-EPMC5808456 | biostudies-literature
UnknownA second update on mapping the human genetic architecture of COVID-19.
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S-EPMC10482689 | biostudies-literature
UnknownMapping the human genetic architecture of COVID-19.
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S-EPMC8674144 | biostudies-literature
UnknownOutcomes of elective liver surgery worldwide: a global, prospective, multicenter, cross-sectional study.
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S-EPMC10720814 | biostudies-literature
UnknownExome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Not available
S-EPMC9980234 | biostudies-literature
UnknownExome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Not available
S-EPMC11646479 | biostudies-literature
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