Lv1
13 积分 2022-03-28 加入
Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
11小时前
待确认
Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
11小时前
已完结
Genotype-Phenotype Correlation of SCN5A Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands
12小时前
已完结
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations
8天前
已完结
Analysis of 12 cases with methylmalonicacidemia cblA type
15天前
已完结
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations
16天前
已完结
Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature
28天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
28天前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
29天前
已完结
Identification and Characteristics of Novel Mutations in Nonsyndromic Monogenic Obesity
1个月前
已完结
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