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Unraveling the complexity of skeletal dysplasias in the national health system
Dorra Najjar, Aleš Maver, Ana Marija Peterlin, Helena Jaklič, Borut Peterlin
Izvirni znanstveni članek
Oznake: CNV;copy number variants;NGS;next-generation sequencing;diagnostic yield;molecular pathology;prenatal diagnosis;rare genetic diseases;skeletal dysplasia;
Introduction: Skeletal dysplasia (SD) is a large and heterogeneous group of rare genetic disorders that affects bone and cartilage growth. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. However, the diagnostics is challenging due to clinical and genetic hetero ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
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