Maria J. Simoes
Cantanhede, Portugal
Last Updated: 09/26/2026
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Found 10 publications
Pulmonary Abscess Caused by Neisseria meningitidis: A Case Report.
Journal: Cureus
Published: February 13, 2026
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: November 23, 2022
SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.
Journal: Investigative ophthalmology & visual science
Published: October 07, 2020
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.
Journal: American journal of medical genetics. Part A
Published: April 28, 2016
Genetic variants in ICAM1, PPARGC1A and MTHFR are potentially associated with different phenotypes of diabetic retinopathy.
Journal: Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde
Published: June 06, 2014
Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens.
Journal: Journal of skin cancer
Published: July 13, 2013
Liver hepcidin mRNA expression is inappropriately low in alcoholic patients compared with healthy controls.
Journal: European journal of gastroenterology & hepatology
Published: June 27, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026