Pedro Arias

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 63 publications

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: July 06, 2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Journal: Clinical genetics
Published: June 05, 2026

Pre-emptive CYP2C19 genotyping and voriconazole exposure in pediatric hematology patients at risk of aspergillosis: an exploratory randomized pilot study with a cost-consequence analysis.

Pre-emptive CYP2C19 genotyping and voriconazole exposure in pediatric hematology patients at risk of aspergillosis: an exploratory randomized pilot study with a cost-consequence analysis.

Journal: Frontiers in pharmacology
Published: March 14, 2026

Correction: Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G.

Correction: Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G.

Journal: Frontiers in medicine
Published: January 02, 2026

Pharmacogenetic biomarkers for predicting therapeutic response to JAK inhibitors in rheumatoid arthritis.

Pharmacogenetic biomarkers for predicting therapeutic response to JAK inhibitors in rheumatoid arthritis.

Journal: Advances in laboratory medicine
Published: November 04, 2025

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G.

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G.

Journal: Frontiers in medicine
Published: August 18, 2025

DPYD-guided fluoropyrimidine dose adjustment in colorectal cancer DPYD carriers: start slower to finish stronger.

DPYD-guided fluoropyrimidine dose adjustment in colorectal cancer DPYD carriers: start slower to finish stronger.

Journal: Frontiers in pharmacology
Published: June 11, 2025

Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension.

Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension.

Journal: European journal of human genetics : EJHG
Published: June 05, 2025

Investigation of multilocus imprinting disturbance (MLID) in 101 Beckwith-Wiedemann spectrum patients.

Investigation of multilocus imprinting disturbance (MLID) in 101 Beckwith-Wiedemann spectrum patients.

Journal: Clinical epigenetics
Published: April 29, 2025

Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

Journal: Clinical genetics
Published: March 12, 2025

A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.

A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.

Journal: American journal of medical genetics. Part A
Published: January 16, 2025

Mortality in Patients with 22q11.2 Rearrangements.

Mortality in Patients with 22q11.2 Rearrangements.

Journal: Genes
Published: July 17, 2024
Showing 1-12 of 63

Last Updated: 09/26/2026