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268 积分 2025-06-10 加入
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
1天前
已完结
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
1天前
已完结
Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta
1天前
已完结
[Prenatal diagnosis for two families affected with cleidocranial dysplasia due to novel RUNX2 variants]
11天前
已完结
New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients
21天前
已完结
Genotype and Phenotype Analysis of 171 Patients Referred for Molecular Study of the Fibrillin-1 Gene FBN1 Because of Suspected Marfan Syndrome
29天前
已完结
Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related
1个月前
已完结
Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families
1个月前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
1个月前
已完结
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