Uniovi-Pediatría OviPed - Artículos

Artículos

X-linked hypophosphatemia and growth [2017]
NFKBIZ in Psoriasis: Assessing the association with gene polymorphisms and report of a new transcript variant [2017]
The Ups and Downs of Genetic Diagnosis of Hypertrophic Cardiomyopathy [2016]
Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes among Tunisian Patients [2016]
Primary distal renal tubular acidosis: Novel findings in patients studied by next-generation sequencing [2016]
Next generation sequencing of the NOTCH3 gene in a cohort of pulmonary hypertension patients [2016]
KCNQ1 gene variants in the risk for type 2 diabetes and impaired renal function in the Spanish Renastur cohort [2016]
Gitelman syndrome: a review of clinical features, genetic diagnosis and therapeutic management [2016]
Common and rare CARD14 gene variants affect the antitumour necrosis factor response among patients with psoriasis [2016]
A Single Nucleotide Polymorphism in the Il17ra Promoter Is Associated with Functional Severity of Ankylosing Spondylitis [2016]
An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations [2016]
The TNFRSF1B rs1061622 polymorphism (p.M196R) is associated with biological drug outcome in Psoriasis patients [2015]
The donor ABCB1 (MDR-1) C3435T polymorphism is a determinant of the graft glomerular filtration rate among tacrolimus treated kidney transplanted patients [2015]
The Cw6 and late-cornified envelope genotype plays a significant role in anti-tumor necrosis factor response among psoriatic patients [2015]
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study [2015]

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