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UnknownThe Toxicology Investigators Consortium Case Registry-the 2021 Annual Report.
Not available
S-EPMC9450833 | biostudies-literature
UnknownThe Toxicology Investigators Consortium 2022 Annual Report.
Not available
S-EPMC10522558 | biostudies-literature
UnknownGenomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Not available
S-EPMC7614484 | biostudies-literature
UnknownHistone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Not available
S-EPMC5778085 | biostudies-literature
UnknownPrevalence and architecture of de novo mutations in developmental disorders.
Not available
S-EPMC6016744 | biostudies-literature
UnknownNot all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
Not available
S-EPMC5589790 | biostudies-literature
UnknownHeterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Not available
S-EPMC6556837 | biostudies-literature
UnknownCHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Not available
S-EPMC6218476 | biostudies-literature
UnknownBi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Not available
S-EPMC6507039 | biostudies-literature
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