Lv5
1250 积分 2025-03-17 加入
Effect of recombinant von Willebrand factor reproducing type 2B or type 2M mutations on shear-induced platelet aggregation
10小时前
求助中
Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease
10小时前
求助中
Genetic analysis and prenatal diagnosis of two Chinese families with split hand foot malformation
11天前
已完结
Postmortem genetic analysis of sudden unexplained death syndrome under 50 years of age: A next-generation sequencing study
20天前
已完结
Prenatal Phenotypic Analysis of Branchio-Oto-Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review
1个月前
已完结
八个遗传性异常纤维蛋白原血症家系的临床和基因突变分析
1个月前
已完结
The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease
1个月前
已完结
Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population
1个月前
已完结
Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation
1个月前
已完结
Penetrance, variable expressivity and monogenic neurodevelopmental disorders
1个月前
已完结