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List of works by Pedro Arias

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

scientific article published on 16 December 2014

A new overgrowth syndrome is due to mutations in RNF125.

scientific article published in December 2014

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

scientific article

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

scientific article published on 2 August 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

scientific article published on 25 June 2018

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

scientific article published on 04 November 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.

scientific article published on 21 July 2016

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

scientific article

Molecular characterization of breast cancer cell response to metabolic drugs

scientific article published on 8 January 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.

scientific article

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

scientific article published on 11 September 2017

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