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UnknownTMEM63A, associated with hypomyelinating leukodystrophies, is an evolutionarily conserved regulator of myelination.
Not available
S-EPMC12318207 | biostudies-literature
UnknownLoss of Baiap2l2 destabilizes the transducing stereocilia of cochlear hair cells and leads to deafness.
Not available
S-EPMC7898316 | biostudies-literature
UnknownQuantifying the Size and Duration of a Microburst-Producing Chorus Region on 5 December 2017.
Not available
S-EPMC9540649 | biostudies-literature
UnknownInterrater Reliability of Experts in Identifying Interictal Epileptiform Discharges in Electroencephalograms.
Not available
S-EPMC6806666 | biostudies-literature
UnknownGenetic basis of a cognitive complexity metric.
Not available
S-EPMC4393228 | biostudies-literature
UnknownNovel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
Not available
S-EPMC6128700 | biostudies-literature
UnknownSafety and Efficacy of Natalizumab as Adjunctive Therapy for People With Drug-Resistant Epilepsy: A Phase 2 Study.
Not available
S-EPMC8610627 | biostudies-literature
UnknownLoss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Not available
S-EPMC6856713 | biostudies-literature
UnknownAnalysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.
Not available
S-EPMC8930703 | biostudies-literature
UnknownBiallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Not available
S-EPMC11228227 | biostudies-literature
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