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UnknownClinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.
Not available
S-EPMC9777962 | biostudies-literature
UnknownSHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.
Not available
S-EPMC9944922 | biostudies-literature
UnknownExpanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Not available
S-EPMC8634087 | biostudies-literature
UnknownA Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi Families.
Not available
S-EPMC9563936 | biostudies-literature
UnknownA Report of a Child with SEC31A-Related Neurodevelopmental Disorder.
Not available
S-EPMC12155280 | biostudies-literature
UnknownDiscovery and <i>In Silico</i> Characterization of Anatolian Water Buffalo Rumen-Derived Bacterial Thermostable Xylanases: A Sequence-Based Metagenomic Approach.
Not available
S-EPMC11966585 | biostudies-literature
UnknownA Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
Not available
S-EPMC8774908 | biostudies-literature
UnknownClinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.
Not available
S-EPMC9241032 | biostudies-literature
UnknownBi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Not available
S-EPMC8041041 | biostudies-literature
UnknownAMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Not available
S-EPMC10328903 | biostudies-literature
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