Lv21
136 积分 2024-10-16 加入
Spectrum of genetic variants in the commonest genes causing inherited retinal disease in a large molecularly characterised UK cohort
5天前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
5天前
已关闭
Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan
11天前
已关闭
The Canadian “National Program for hemophilia mutation testing” database: A ten‐year review
12天前
已完结
FVIII inhibitor risk correlated with F8 gene variants in 296 unrelated male Chinese patients with haemophilia A
12天前
已完结
Combined homology modelling and evolutionary significance evaluation of missense mutations in blood clotting factor VIII to highlight aspects of structure and function
12天前
已完结
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
24天前
已完结
P098: CHEK2 variants contributing to hereditary breast cancer in Pakistan: A tertiary healthcare center experience
1个月前
已完结
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
1个月前
已完结
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