Ana Gonçalves

Portugal

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Articles (8)

Year:

2023

Year:

2023

Year:

2022

Year:

2022

Year:

2021

Year:

2021

Year:

2020

Year:

2020

Collaborators (4)

Nuno Maia

Invited associated professor

Instituto Politécnico de Leiria

PORTUGAL

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António Nogueira

Full Professor

Universidade de Aveiro

PORTUGAL

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Mário Sousa

Full Professor

Instituto de Ciências Biomédicas Abel Salazar

PORTUGAL

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Johan den Dunnen

Leiden University Medical Center

NETHERLANDS

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Ana Gonçalves

Research Interests

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Contact this professor

Articles (8)

X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy

A new case of platelet‐type von Willebrand disease supports the recent findings of gain‐of‐function <i>GP1BA</i> variants outside the C‐terminal disulphide loop enhances affinity for von Willebrand factor

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles

Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis

Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (<i>DMD</i>)

CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum

Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

Collaborators (4)

Nuno Maia

António Nogueira

Mário Sousa

Johan den Dunnen

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