Lv1
50 积分 2023-06-20 加入
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease‐associated pathogenic variants
1天前
待确认
Mutation screening of VPS16 gene in patients with isolated dystonia
12天前
已完结
Mutation analysis of thespastingene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
14天前
已完结
Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia
14天前
已关闭
Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia
14天前
已完结
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese
18天前
已完结
Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency
18天前
已完结
Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations
29天前
已完结
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review
29天前
已完结
Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family
1个月前
已完结
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