Lv3
330 积分 2024-09-14 加入
Identification of LargeNF1Duplications Reciprocal to NAHR-Mediated Type-1NF1Deletions
12天前
已完结
Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency
22天前
已完结
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B
1个月前
已完结
A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease
1个月前
已完结
A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann–Pick disease
1个月前
已完结
Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease
1个月前
已完结
Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS
1个月前
已完结
A Case of a De Novo A3243G Mutation in Mitochondrial DNA in a Patient with Diabetes and Deafness
1个月前
已完结
De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
1个月前
已完结
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress
1个月前
已完结
皖公网安备34019202002308
