Joao Freixo-Parente
Porto, Portugal
Last Updated: 09/26/2026
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Found 10 publications
Two novel variants in ALDH1A3 associated with anophthalmia and congenital cystic eye.
Journal: Ophthalmic genetics
Published: January 02, 2025
Hereditary angioedema with normal C1-inhibitor: Clinical and genetic characterization of 15 Portuguese unrelated families.
Journal: Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology
Published: November 11, 2023
Acute onset of adult Alexander disease and the concept of GFAP toxicity.
Journal: Journal of the neurological sciences
Published: July 20, 2023
Hemophagocytic lymphohistiocytosis in an adolescent with NLRP12-related autoinflammatory disorder-A case report.
Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Published: April 30, 2023
Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment.
Journal: Frontiers in pediatrics
Published: April 04, 2023
Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome.
Journal: American journal of medical genetics. Part A
Published: September 06, 2021
Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: September 03, 2020
Showing 1-10 of 10
Last Updated: 09/26/2026