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68 积分 2022-03-03 加入
The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic
7小时前
已完结
Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants
7天前
已完结
Diagnostic Yield of Exome Sequencing in Early-Onset Hypertensive Nephropathy in Adults
8天前
已关闭
Diagnostic Yield of Exome Sequencing in Early-Onset Hypertensive Nephropathy in Adults
8天前
已完结
Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?
11天前
已完结
Phenotype–genotype correlations in patients with Alport syndrome from the Polish population
14天前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
15天前
已完结
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
16天前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
17天前
已完结
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients
17天前
已完结
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