Lv6
2610 积分 2023-08-28 加入
Expanding the molecular diversity and phenotypic spectrum of glycerol 3‐phosphate dehydrogenase 1 deficiency
10小时前
已关闭
[Study of RET protooncogene in multiple endocrine neoplasm 2A and in familial medullary thyroid carcinoma. Clinical pathological findings in asymptomatic carriers]
3天前
求助中
RET Genetic Screening in Patients with Medullary Thyroid Cancer and Their Relatives: Experience with 807 Individuals at One Center
3天前
已完结
Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC
3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)
3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?
3天前
已完结
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A
4天前
已完结
Implication of androgen receptor gene dysfunction in human Müllerian duct anomalies
9天前
已完结
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
10天前
已完结
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
10天前
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