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80 积分 2025-04-01 加入
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms
5天前
已完结
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION
16天前
已完结
The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype
19天前
已完结
Segregation analysis in nonsyndromic holoprosencephaly
27天前
已完结
Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort
1个月前
已关闭
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
1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
1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
1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
1个月前
已关闭
22q13.33 duplication involving SHANK3 gene: a boy and his mother with “persistent” language and speech sound disorder
1个月前
已完结
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