Lv63
2630 积分 2023-08-28 加入
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing
4小时前
已关闭
Genotype-phenotype Description of Vitamin D–dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease
23小时前
待确认
Expanding the molecular diversity and phenotypic spectrum of glycerol 3‐phosphate dehydrogenase 1 deficiency
1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]
5天前
已关闭
RET Genetic Screening in Patients with Medullary Thyroid Cancer and Their Relatives: Experience with 807 Individuals at One Center
5天前
已完结
Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC
5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)
5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?
5天前
已完结
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A
6天前
已完结
Implication of androgen receptor gene dysfunction in human Müllerian duct anomalies
11天前
已完结
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