Lv31
390 积分 2023-09-13 加入
Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families
1小时前
待确认
The Mouse p (pink‐eyed dilution) and Human P Genes, Oculocutaneous Albinism Type 2 (OCA2), and Melanosomal pH
1小时前
已完结
Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays
2个月前
已完结
Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens
2个月前
已完结
Trisomy 6q syndrome: a case with a > 6q23 tandem duplication
2个月前
已关闭
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
2个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
4个月前
已完结
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome
4个月前
已完结
[A novel GATA4 mutation leading to congenital ventricular septal defect]
5个月前
已完结
[Prenatal diagnosis of a fetus with 5p15.33 microdeletion]
5个月前
已完结
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