Lv3
380 积分 2021-02-05 加入
Clinical and laboratory interpretation of mitochondrial mRNA variants
3个月前
已完结
Genetic mutations in non-syndromic deafness patients in Hainan Province have a different mutational spectrum compared to patients from Mainland China
8个月前
已完结
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain
8个月前
已完结
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum
8个月前
已完结
Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
8个月前
已完结
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants
9个月前
已完结
Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening
9个月前
已完结
Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2
9个月前
已完结
Assessment of the functional impact on the pre‐mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology
9个月前
已完结
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations
11个月前
已完结
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