Lv3
280 积分 2023-12-21 加入
Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene
4天前
已完结
Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction
4天前
已完结
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
10天前
已完结
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation
12天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
18天前
已完结
Clinical and Genetic Etiologies of Neonatal Unconjugated Hyperbilirubinemia in the China Neonatal Genomes Project
18天前
已完结
Biallelic ANKS6 null variants cause notable extrarenal phenotypes in a nephronophthisis patient and lead to hepatobiliary abnormalities by YAP1 deficiency
21天前
已完结
A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1
21天前
已完结
Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family
24天前
已完结
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
27天前
已完结
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