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UnknownBRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
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S-EPMC10474045 | biostudies-literature
UnknownGene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.
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S-EPMC7079346 | biostudies-literature
UnknownBiallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
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S-EPMC5384096 | biostudies-literature
UnknownBiallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
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S-EPMC8219359 | biostudies-literature
UnknownAssessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy.
Not available
S-EPMC6796782 | biostudies-literature
UnknownSpliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Not available
S-EPMC10760965 | biostudies-literature
UnknownAnalysis of shared heritability in common disorders of the brain.
Not available
S-EPMC6097237 | biostudies-literature
UnknownGlobal hospital-based disease management of acute diverticulitis: a prospective, international cohort study.
Not available
S-EPMC12512976 | biostudies-literature
UnknownExtended pharmacological thromboprophylaxis and clinically relevant venous thromboembolism after major abdominal and pelvic surgery: international, prospective, propensity score-weighted cohort study.
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S-EPMC11894929 | biostudies-literature
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