Lv5
970 积分 2023-07-23 加入
Homozygous c.130–131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry
6天前
已完结
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA
8天前
已关闭
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects
12天前
已完结
Molecular Genetic Analysis of Newborns with Congenital Microcephaly
15天前
已完结
The clinical and genetic landscape of early‐onset thrombophilia in Japan
22天前
已完结
Genetic findings in patients with primary fibrotic atrial cardiomyopathy
26天前
已完结
A novel mutation ofCLCNKBin a Korean patient of mixed phenotype of Bartter-Gitelman syndrome
1个月前
已完结
Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains
1个月前
已完结
Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease
1个月前
已完结
Novel variant in WNT10A caused short anagen hair syndrome in a Chinese pedigree
1个月前
已完结
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