Lv1
70 积分 2025-04-17 加入
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies
7天前
已完结
FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations
7天前
已完结
Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood
8天前
已完结
X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene
8天前
已关闭
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains
15天前
已完结
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia
15天前
已完结
Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan
19天前
已完结
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease
19天前
已完结
Prenatal diagnosis of mitochondrial DNA8993 T----G disease
19天前
已关闭
Renal manifestations in children with neurofibromatosis type 1
20天前
已完结
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