Lv4
440 积分 2024-11-08 加入
Glikojen depo hastalığı tip III tanılı 10 Türk olgunun mutasyon analizleri: dört yeni mutasyonun tanımlanması
9天前
已完结
Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India
17天前
已完结
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia
17天前
已完结
Bone Marrow Mesenchymal Stem Cells Carrying FANCD2 Mutation Differ from the Other Fanconi Anemia Complementation Groups in Terms of TGF-β1 Production
1个月前
已关闭
Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India
1个月前
已完结
以腹痛为首发症状的轻型Gitelman综合征患儿1例及文献复习
1个月前
已关闭
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults
1个月前
已完结
Spectrum of Mutations in Gitelman Syndrome
1个月前
已关闭
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis
1个月前
已完结
[Genetic testing and prenatal diagnosis in seven pedigrees affected with ornithine transcarbamylase deficiency]
1个月前
已完结
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