Lv6
1710 积分 2023-07-23 加入
Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1‐qter)
9天前
已完结
Arrhythmogenic Right Ventricular Cardiomyopathy Presenting as Clinical Myocarditis in Women
10天前
已完结
Taxonomy of Naumann’s and dusky, red-throated and black-throated thrush complexes (Aves: Turdidae) using morphological and molecular characteristics
12天前
已关闭
Location matters – Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P
15天前
已完结
Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R
17天前
已完结
Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis
17天前
已完结
Overgrowth syndromes, diagnosis and management
19天前
已关闭
Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature
20天前
已完结
Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis
20天前
已完结
Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations
20天前
已完结
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