Lv2
200 积分 2025-09-23 加入
Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing
16天前
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
21天前
已完结
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results
23天前
已关闭
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
26天前
已完结
Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene
29天前
已完结
Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus
1个月前
已完结
[Hereditary motor and sensory neuropathy type 4A]
1个月前
已关闭
Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations
1个月前
已完结
Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor
1个月前
已完结
Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing
2个月前
已关闭
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