Lv11
30 积分 2022-06-05 加入
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract
9小时前
待确认
SLC4A1突变致原发性远端肾小管酸中毒遗传学与临床分析
7天前
已完结
Papillorenal综合征的基因特点与临床分析
7天前
已完结
Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome
19天前
已完结
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome
29天前
已完结
Mutations inProkineticin 2andProkineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum
1个月前
已完结
Biallelic <i>PROKR2</i> variants and congenital hypogonadotropic hypogonadism: a case report and a literature review
1个月前
已完结
Becker型肌营养不良诊治中国专家共识
1个月前
已完结
Clinical validation and application of targeted long-range PCR and long-read sequencing-based analysis for haemophilia: experience from a haemophilia treatment centre in China
2个月前
已完结
Detection of hemophilia A genetic variants using third-generation long-read sequencing
2个月前
已完结
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