Lv1
30 积分 2024-12-03 加入
Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families
2天前
已完结
Prenatal diagnosis of Chinese families with phenylketonuria
4天前
已完结
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy
4天前
已完结
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
9天前
已完结
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy
14天前
已完结
Unique and Recurrent Mutations in the Filaggrin Gene in Singaporean Chinese Patients with Ichthyosis Vulgaris
20天前
已完结
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene
28天前
已完结
Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis
1个月前
已完结
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
1个月前
已完结
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
1个月前
已完结
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