Lv3
208 积分 2024-02-27 加入
Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia
1个月前
已完结
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia
1个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
1个月前
已完结
T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease
2个月前
已完结
[Identification of pathogenic mutations in two Chinese families affected with primary localized cutaneous amyloidosis]
2个月前
已完结
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing
4个月前
已完结
Genetic mutations resulting in loss of aromatase activity in humans and mice
4个月前
已关闭
Aromatase Deficiency in a Female Who Is Compound Heterozygote for Two New Point Mutations in the P450arom Gene: Impact of Estrogens on Hypergonadotropic Hypogonadism, Multicystic Ovaries, and Bone Densitometry in Childhood1
4个月前
已完结
Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family
5个月前
已完结
[Comparative study of gene mutation between Chinese patients with familial and sporadic hypertrophic cardiomyopathy]
5个月前
已完结
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