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Full article: Autosomal dominant neovascular inflammatory vitreoretinopathy with CAPN5 c.731T > C gene mutation; clinical management of a family cohort and review of the literature
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Genes | Free Full-Text | Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures
Low-Replicating Viruses and Strong Anti-Viral Immune Response Associated with Prolonged Disease Control in a Superinfected HIV-1 LTNP Elite Controller | PLOS ONE
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Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium - ScienceDirect
Frontiers | Long-term outcome after combined or sequential liver and kidney transplantation in children with infantile and juvenile primary hyperoxaluria type 1
Accepted Article
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 | European Journal of Human Genetics
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The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice - Vural - 2021 - Movement Disorders - Wiley Online Library
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective | European Journal of Human Genetics
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Primary Hyperoxaluria - ScienceDirect
Duration of SHIV production by infected cells is not exponentially distributed: Implications for estimates of infection parameters and antiviral efficacy | Scientific Reports
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Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation - ScienceDirect
Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration | PLOS Genetics
