Lv1
20 积分 2025-09-12 加入
Hemoglobin Siam (alpha 2 15 arg beta 2): a new alpha-chain variant
24天前
已关闭
脊髓性肌萎缩症遗传学诊断专家共识
1个月前
已完结
Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients
1个月前
已关闭
Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients
1个月前
已关闭
[Expert consensus over genetic counseling for carrier screening of Spinal muscular atrophy]
1个月前
已完结
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease]
1个月前
已完结
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease
2个月前
已完结
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing
5个月前
已完结
A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene
8个月前
已关闭
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry
8个月前
已完结
皖公网安备34019202002308
