Lv31
272 积分 2024-11-22 加入
Types of pancreatic lesions and the mutational landscape of the VHL gene in patients with von Hippel-Lindau disease
47分钟前
已完结
Mistargeting and ER retention of CLN7 patient-associated nonsense and sequence deletion mutations as a novel cause for CLN7 disease
3天前
已完结
21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations
6天前
已完结
Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in west Indian population
12天前
已完结
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium
24天前
已完结
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency
26天前
已关闭
Description of Hb Évora (HBA2: c.106T>C) on an Unexpected Allele in a Swiss Family
1个月前
已完结
A Hemoglobin Variant, Resulting from a Novel Missense Mutation [CD 112(G14) Cys > Ser (TGT > TCT); HBB : C.338G > C], Was Discovered by MALDI-TOF MS
1个月前
已完结
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT -related retinopathy
1个月前
已完结
Hemoglobin pitie-salpetriere β34 (B16) Val → Phe a new high oxygen affinity variant associated with familial erythrocytosis
1个月前
已完结
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