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36 积分 2026-01-16 加入
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
19天前
已完结
PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes
27天前
已完结
PARS2 deficiency impairs mitochondrial homeostasis and activates ferroptotic to drive developmental and epileptic encephalopathy
1个月前
已完结
Four cancer cases with pathological germline variant RAD51D c.270_271dup
1个月前
已完结
Catecholamines and Parkinson's disease: tyrosine hydroxylase (TH) over tetrahydrobiopterin (BH4) and GTP cyclohydrolase I (GCH1) to cytokines, neuromelanin, and gene therapy: a historical overview
1个月前
已完结
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review
1个月前
已完结
Phenotypic, Genotypic Characteristics, and Treatment Strategies of Pediatric Tyrosine Hydroxylase Deficiency: A Single-Center Retrospective Analysis of 51 Cases
1个月前
已完结
A rare complex structural variant of novel intragenic inversion combined with reciprocal translocation t(X;1)(p21.2;p13.3) in Duchenne muscular dystrophy
1个月前
已完结
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt
1个月前
已完结
First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum
1个月前
已完结
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