Lv3
240 积分 2025-09-23 加入
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation
13天前
已完结
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
17天前
已完结
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia
20天前
已完结
Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin–Lowry syndrome in a family with variable features and diabetes 2
27天前
已完结
Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing
2个月前
已完结
Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects
2个月前
已完结
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results
2个月前
已关闭
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
2个月前
已完结
Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene
2个月前
已完结
Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus
2个月前
已完结
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