Lv1
100 积分 2025-04-01 加入
A new mutation, Ala1500-->Glu, responsible for type 2A von Willebrand disease
1个月前
已关闭
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms
1个月前
已完结
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION
2个月前
已完结
The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype
2个月前
已完结
Segregation analysis in nonsyndromic holoprosencephaly
2个月前
已完结
Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort
2个月前
已关闭
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
3个月前
已完结
Twenty-Four Novel Hemophilia B Mutations Revealed by Rapid Scanning of the Whole Factor IX Gene in a French Population Sample
3个月前
已关闭
Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements
3个月前
已关闭
Twenty-Four Novel Hemophilia B Mutations Revealed by Rapid Scanning of the Whole Factor IX Gene in a French Population Sample
3个月前
已关闭
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