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UnknownMacrocephaly and developmental delay caused by missense variants in RAB5C.
Not available
S-EPMC10586195 | biostudies-literature
UnknownBiallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Not available
S-EPMC10506156 | biostudies-literature
UnknownDominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Not available
S-EPMC10270265 | biostudies-literature
UnknownUnraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
Not available
S-EPMC10542653 | biostudies-literature
UnknownModel organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.
Not available
S-EPMC8103593 | biostudies-literature
UnknownA syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Not available
S-EPMC10806447 | biostudies-literature
UnknownFrailty, Multimorbidity, and Polypharmacy: Exploratory Analyses of the Effects of Empagliflozin from the EMPA-KIDNEY Trial.
Not available
S-EPMC11390031 | biostudies-literature
UnknownBi-allelic variants in INTS11 are associated with a complex neurological disorder.
Not available
S-EPMC10183469 | biostudies-literature
UnknownDe novo variants in DENND5B cause a neurodevelopmental disorder.
Not available
S-EPMC10940048 | biostudies-literature
UnknownAdvancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Not available
S-EPMC11698638 | biostudies-literature
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