Lv3
390 积分 2023-07-21 加入
17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review
2天前
已完结
Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature
6天前
已完结
SPTAN1 —Results of a Caregiver Survey
27天前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
1个月前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
1个月前
已完结
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK
2个月前
已完结
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
3个月前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
3个月前
已完结
Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia
3个月前
已完结
Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia
3个月前
已完结