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UnknownDominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Not available
S-EPMC10270265 | biostudies-literature
UnknownContinuing a search for a diagnosis: the impact of adolescence and family dynamics.
Not available
S-EPMC9830697 | biostudies-literature
UnknownPhenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Not available
S-EPMC8488020 | biostudies-literature
UnknownBehavior Profiles at 2 Years for Children Born Extremely Preterm with Bronchopulmonary Dysplasia.
Not available
S-EPMC7096270 | biostudies-literature
UnknownLoss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Not available
S-EPMC11451386 | biostudies-literature
UnknownEndocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Not available
S-EPMC9586540 | biostudies-literature
UnknownWhole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.
Not available
S-EPMC12418676 | biostudies-literature
UnknownIdentification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Not available
S-EPMC6634302 | biostudies-literature
UnknownHNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Not available
S-EPMC10432175 | biostudies-literature
UnknownHydrocortisone to Improve Survival without Bronchopulmonary Dysplasia.
Not available
S-EPMC9107291 | biostudies-literature
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