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UnknownEffects of Oveporexton, an Orexin Receptor 2-Selective Agonist, on Cognition in Narcolepsy Type 1: A Secondary Analysis of a Randomized Clinical Trial.
Not available
S-EPMC12687147 | biostudies-literature
UnknownMutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Not available
S-EPMC5894478 | biostudies-literature
UnknownMutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature.
Not available
S-EPMC4154508 | biostudies-literature
UnknownGain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Not available
S-EPMC11068105 | biostudies-literature
UnknownWidening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Not available
S-EPMC9063678 | biostudies-literature
UnknownDominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Not available
S-EPMC12165858 | biostudies-literature
UnknownSystematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies.
Not available
S-EPMC12424890 | biostudies-literature
UnknownAssessing the contribution of rare variants to complex trait heritability from whole-genome sequence data.
Not available
S-EPMC9119698 | biostudies-literature
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