Lv6
2640 积分 2023-08-28 加入
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
1天前
待确认
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing
2天前
已关闭
Genotype-phenotype Description of Vitamin D–dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease
3天前
已完结
Expanding the molecular diversity and phenotypic spectrum of glycerol 3‐phosphate dehydrogenase 1 deficiency
4天前
已关闭
[Study of RET protooncogene in multiple endocrine neoplasm 2A and in familial medullary thyroid carcinoma. Clinical pathological findings in asymptomatic carriers]
7天前
已关闭
RET Genetic Screening in Patients with Medullary Thyroid Cancer and Their Relatives: Experience with 807 Individuals at One Center
7天前
已完结
Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC
7天前
已完结
RET genetic screening of sporadic medullary thyroid cancer (MTC) allows the preclinical diagnosis of unsuspected gene carriers and the identification of a relevant percentage of hidden familial MTC (FMTC)
7天前
已完结
Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer?
7天前
已完结
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A
8天前
已完结
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