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A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

artículo científico publicado en 2014

A new overgrowth syndrome is due to mutations in RNF125.

artículo científico publicado en 2014

Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.

artículo científico publicado en 2017

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

artículo científico publicado en 2016

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

scientific article published on 23 January 2020

Further delineation of Malan syndrome

artículo científico publicado en 2018

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

artículo científico publicado en 2019

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

article

Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.

artículo científico publicado en 2016

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

artículo científico publicado en 2017

Molecular characterization of breast cancer cell response to metabolic drugs.

artículo científico publicado en 2018

Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish population

scientific article published on 04 July 2019

Simpson-Golabi-Behmel syndrome types I and II.

artículo científico publicado en 2014

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.

artículo científico publicado en 2017

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