Ana Rita Soares

5PUBLICATIONS

55CO-AUTHORS

Immunogenetics (incl. genetic immunology)Medical infection agents (incl. prions)Neurology and neuromuscular diseases

Get your video featured.

Publish with JoVE

Get your video featured.

Publish with JoVE

Publications (5)

Sort by Publication Date:

|Sep 24, 2026

Defining the Genetic and Phenotypic Landscape of Primary Immune Regulatory Disorders Using the ClinGen Validation Framework.

|Nov 07, 2025

Beatriz Tavares da Silva, Ana Torrão Pinheiro, Miguel Saraiva

|Dec 23, 2022

Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication.

Jorge Diogo Da Silva, Diana Gonzaga, Ana Barreta

|Nov 17, 2022

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Elizabeth E Palmer, Michael Pusch, Alessandra Picollo

|Dec 28, 2020

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

Nuno Maia, Ana Rita Soares, Ana Maria Fortuna

Pageof 1

Frequent Collaborators

Jorge Diogo Da Silva

Elizabeth E Palmer

Michael Pusch

Claire Beneteau

Fowzan S Alkuraya

Amy McTague

Lucie Dupuis

Salima El Chehadeh

Siddharth Banka

Jennifer M Bain

Frequent Collaborators

Jorge Diogo Da Silva

Elizabeth E Palmer

Michael Pusch

Claire Beneteau