Lv1
10 积分 2025-03-04 加入
[Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology]
27天前
已完结
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA
2个月前
已完结
[A novel CD36 mutation T538C (Trp180Arg) results in CD36 deficiency and establishment of a genotyping method for the novel mutation based on sequence-specific primer PCR]
3个月前
已完结
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
3个月前
已完结
[Mutation analysis of two pedigrees with suspected oculocutaneous albinism]
5个月前
已完结
Molecular analysis of human acatalasemia
5个月前
已完结
Genotype–phenotype correlations and effect of mutation location in Japanese CADASIL patients
6个月前
已完结
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy
7个月前
已关闭
Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy
7个月前
已完结
The guidelines for clinical practice for carriers of germline mutations in the Lynch syndrome predisposition genes MLH1, MSH2, MSH6, PMS2 and large deletions of EPCAM (4.2024)
7个月前
已完结