about
Simpson-Golabi-Behmel syndrome types I and II.mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.A new overgrowth syndrome is due to mutations in RNF125.Molecular characterization of breast cancer cell response to metabolic drugs.Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.MRX93 syndrome (BRWD3 gene): five new patients with novel mutationsFurther delineation of Malan syndromeFurther delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patientsPrediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish populationFurther definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Pedro Arias
@en
Pedro Arias
@nl
type
label
Pedro Arias
@en
Pedro Arias
@nl
prefLabel
Pedro Arias
@en
Pedro Arias
@nl
P31
P496
0000-0001-6055-285X