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UnknownDe Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Not available
S-EPMC6817525 | biostudies-literature
UnknownDominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Not available
S-EPMC10270265 | biostudies-literature
UnknownDetection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
Not available
S-EPMC8372083 | biostudies-literature
UnknownHeterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Not available
S-EPMC6688907 | biostudies-literature
UnknownAn autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Not available
S-EPMC8026396 | biostudies-literature
UnknownAn optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.
Not available
S-EPMC12539062 | biostudies-literature
UnknownGain-of-function mutations in <i>ALPK1</i> cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Not available
S-EPMC9484401 | biostudies-literature
UnknownIdentification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Not available
S-EPMC6634302 | 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
UnknownMacrocephaly and developmental delay caused by missense variants in RAB5C.
Not available
S-EPMC10586195 | biostudies-literature
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