Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Ana Rita Gonçalves

4PUBLICATIONS

14CO-AUTHORS

Cardiovascular medicine and haematology not elsewhere classifiedEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (4)

Sort by Publication Date:

|Sep 09, 2022

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

Catarina Monteiro, Ana Gonçalves, Jorge Oliveira

|Mar 25, 2022

Use of the <i>FMR1</i> Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis.

Bárbara Rodrigues, Ana Gonçalves, Vanessa Sousa

|Dec 28, 2020

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in <i>MYO7A</i> and <i>NEB</i>.

Nuno Maia, Ana Rita Soares, Ana Maria Fortuna

|Dec 04, 2020

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

Sara Morais, Jorge Oliveira, Catarina Lau

Pageof 1

Frequent Collaborators

2 joint publications

Nuno Maia

2 joint publications

Isabel Marques

2 joint publications

Rosário Santos

2 joint publications

Catarina Monteiro

1 joint publications

Ana Rita Soares

1 joint publications

Ana Maria Fortuna

1 joint publications

Manuel Melo Pires

1 joint publications

Arjan P M de Brouwer

1 joint publications

Paula Jorge

1 joint publications

Bárbara Rodrigues

Frequent Collaborators

2 joint publications

Nuno Maia

2 joint publications

Isabel Marques

2 joint publications

Rosário Santos

2 joint publications

Catarina Monteiro

Top Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on : Sep 16, 2019

MultiBac System-Based Purification and Biophysical Characterization of Human Myosin-7a

MultiBac System-Based Purification and Biophysical Characterization of Human Myosin-7a

Published on : Aug 23, 2024

See more related videos

Top Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on : Sep 16, 2019

MultiBac System-Based Purification and Biophysical Characterization of Human Myosin-7a

MultiBac System-Based Purification and Biophysical Characterization of Human Myosin-7a

Published on : Aug 23, 2024

See more related videos