Publications by authors named "Maria Jose Simoes"

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka

Am J Hum Genet· November 2025

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka

Am J Hum Genet· June 2023

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SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.
Terri L Young, Kristina N Whisenhunt, Jing Jin, Sarah M LaMartina, Sean M Martin

Invest Ophthalmol Vis Sci· October 2020

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Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.
Susana Carmona, Maria da Luz Freitas, Hugo Froufe, Maria José Simões, Maria João Sampaio

Am J Med Genet A· June 2017

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Genetic variants in ICAM1, PPARGC1A and MTHFR are potentially associated with different phenotypes of diabetic retinopathy.
Maria José Simões, Conceição Lobo, Conceição Egas, Sandrina Nunes, Susana Carmona

Ophthalmologica· July 2015

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[Resection of bronchogenic cyst by video-mediastinoscopy].
Gustavo Reis, Vânia Sacramento, Maria José Simões, Ivan Bravio, Pedro Baptista

Rev Port Cir Cardiotorac Vasc· June 2015

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Assessment of the geographic origins of pinewood nematode isolates via single nucleotide polymorphism in effector genes.
Joana Figueiredo, Maria José Simões, Paula Gomes, Cristina Barroso, Diogo Pinho

PLoS One· August 2014

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Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens.
Ricardo Vieira, Maria José Simões, Susana Carmona, Conceição Egas, Carlos Faro

J Skin Cancer· November 2013

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Biometrical, Biochemical, and Molecular Diagnosis of Portuguese Meloidogyne hispanica Isolates.
Carla M Maleita, Maria José Simões, Conceição Egas, Rosane H C Curtis, Isabel M de O Abrantes

Plant Dis· June 2012

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A rare case of co-infection with pulmonary tuberculosis and oronasal actinomycosis.
Vitor Alexandre Oliveira Fonseca, Gustavo Reis, Carlos Alves, Maria José Simões, Elvira Camacho

J Bras Pneumol· November 2009

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Lung adenocarcinoma - For how long a good response is the question.
Maria José Simões, Helena Marques, Elvira Camacho, Pinto Saraiva, Fernando Martelo

Rev Port Pneumol· October 2008

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