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UnknownNot all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
Not available
S-EPMC5589790 | biostudies-literature
UnknownBi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Not available
S-EPMC6507039 | biostudies-literature
UnknownMEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus.
Not available
S-EPMC9629420 | biostudies-literature
UnknownA cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Not available
S-EPMC5763155 | biostudies-literature
UnknownLarge-scale discovery of novel genetic causes of developmental disorders.
Not available
S-EPMC5955210 | biostudies-literature
UnknownLarge-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Not available
S-EPMC11736166 | biostudies-literature
UnknownBICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Not available
S-EPMC7820627 | biostudies-literature
UnknownFinding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Not available
S-EPMC6848993 | biostudies-literature
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