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UnknownARF1-related disorder: phenotypic and molecular spectrum.
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S-EPMC10579487 | biostudies-literature
UnknownNext-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
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S-EPMC11319204 | biostudies-literature
UnknownGenomic investigations of unexplained acute hepatitis in children.
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S-EPMC10170458 | biostudies-literature
UnknownExome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
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S-EPMC11646479 | biostudies-literature
UnknownGWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.
Not available
S-EPMC10484785 | biostudies-literature
UnknownExome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Not available
S-EPMC9980234 | biostudies-literature
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