Lv5
821 积分 2021-09-14 加入
[The clinical variability of and approaches to treatment of life-threatening ventricular arrhythmias caused by SCN5A gene mutations]
3天前
已关闭
A heterozygous frameshift mutation of the PTEN/MMAC1 gene in a patient with Lhermitte-Duclos disease - only the mutated allele was expressed in the cerebellar tumor
1个月前
已完结
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
1个月前
已完结
Abnormal processing of β-Malay globin RNA
1个月前
已完结
Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome
1个月前
已完结
Connexin32 and X-linked Charcot-Marie-Tooth disease
2个月前
已完结
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease
2个月前
已完结
Characterization of congenital myopathies at a Korean neuromuscular center
2个月前
已完结
Atypical interhemispheric fusion with a cebocephalic‐like functional single nostril nose and a novel SHH mutation
2个月前
已完结
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
2个月前
已完结