Fatima D. Lopes

Braga, 4710057, Portugal

Last Updated: 09/26/2026

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Found 13 publications

Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders.

Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders.

Journal: Frontiers in neurology

Published: July 02, 2021

A spontaneous cervical epidural hematoma mimicking a stroke - A case report.

A spontaneous cervical epidural hematoma mimicking a stroke - A case report.

Journal: Surgical neurology international

Published: April 07, 2020

Genomic imbalances defining novel intellectual disability associated loci.

Genomic imbalances defining novel intellectual disability associated loci.

Journal: Orphanet journal of rare diseases

Published: January 16, 2019

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 14, 2018

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.

Journal: Frontiers in genetics

Published: April 10, 2018

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Journal: Journal of medical genetics

Published: December 16, 2017

Identification of rare de novo epigenetic variations in congenital disorders.

Identification of rare de novo epigenetic variations in congenital disorders.

Journal: Nature communications

Published: August 29, 2017

Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

Journal: Frontiers in genetics

Published: August 01, 2017

The contribution of 7q33 copy number variations for intellectual disability.

The contribution of 7q33 copy number variations for intellectual disability.

Journal: Neurogenetics

Published: May 22, 2017

Identification of novel genetic causes of Rett syndrome-like phenotypes.

Identification of novel genetic causes of Rett syndrome-like phenotypes.

Journal: Journal of medical genetics

Published: October 06, 2015

Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.

Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: May 18, 2015

Redefining the MED13L syndrome.

Redefining the MED13L syndrome.

Journal: European journal of human genetics : EJHG

Published: July 23, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026