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Entendimiento de la miocardiopatía hipertrófica mediante el estudio de una variante patogénica fundadora;Insights Into Hypertrophic Cardiomyopathy Evaluation Through Follow-up of a Founder Pathogenic Variant [2019]
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia [2019]
Variants in cardiac GATA genes associated with bicuspid aortic valve [2018]
Salt-losing tubulopathy and chronic dermatitis [2018]
New clinical and seasonal evidence of infections by Human Parainfluenzavirus [2018]
Marked alterations in the structure, dynamics and maturation of growth plate likely explain growth retardation and bone deformities of young Hyp mice [2018]
Growth plate alterations in chronic kidney disease [2018]
Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and their association with type 2 diabetes and impaired renal function [2018]
Genetic Variation in the H19-IGF2 Cluster Might Confer Risk of Developing Impaired Renal Function [2018]
Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy [2018]
Distinctive Expression and Amplification of Genes at 11q13 in Relation to HPV Status with Impact on Survival in Head and Neck Cancer Patients [2018]
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations [2018]
Bone remodeling: A tissue-level process emerging from cell-level molecular algorithms [2018]
X-linked hypophosphatemia and growth [2017]
Treponemal disease in the old world? Integrated palaeopathological assessment of a 9th-11th century skeleton from north-central Spain [2017]
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