Rosário Santos

Scopus Author ID Ciência ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 7

Top Topics

Intellectual Disability

Mitochondrial Dna

Genome Wide Identification

Top Venues

International journal of molecular sciences

Clinical case reports

This page only lists publications with an associated author ORCID identifier.

Publications

Catarina Monteiro, Ana Rita Gonçalves, Jorge Oliveira, Ramon Salvado, Jorge Tomaz, Sara Morais, Margarida Lima, Rosário Santos
Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles. International journal of molecular sciences 23 (17) (2022)
Ana Gonçalves, Ana Fortuna, Yavuz Ariyurek, Márcia E Oliveira, Goreti Nadais, Jorge Pinheiro, Johan T den Dunnen, Mário Sousa, Jorge Oliveira, Rosário Santos
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene ( DMD ). International journal of molecular sciences 23 (1) (2021)
Sara Morais, Mónica Pereira, Catarina Lau, Ana Gonçalves, Catarina Monteiro, Marta Gonçalves, Jorge Oliveira, Lurdes Moreira, Eugénia Cruz, Rosário Santos, Margarida Lima
CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2. International journal of molecular sciences 22 (22) (2021)
Nuno Maia, Maria João Nabais Sá, Cláudia Oliveira, Flávia Santos, Célia Azevedo Soares, Catarina Prior, Nataliya Tkachenko, Rosário Santos, Arjan Pm de Brouwer, Ariana Jacome, Beatriz Porto, Paula Jorge
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder? Genes 13 (1) (2021)
Nuno Maia, Ana Rita Soares, Ana Maria Fortuna, Isabel Marques, Ana Rita Gonçalves, Rosário Santos, Manuel Melo Pires, Arjan Pm de Brouwer, Paula Jorge
Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB. Clinical case reports 8 (12) (2020)
Rute Pereira, Telma Barbosa, Ângela Inácio, Elsa Oliveira, Rosário Santos, Jorge Oliveira, Mário Sousa
Clinical and Genetic Analysis of Children with Kartagener Syndrome. Cells 8 (8) (2019)
Ana Gonçalves, Jorge Oliveira, Teresa Coelho, Ricardo Taipa, Manuel Melo-Pires, Mário Sousa, Rosário Santos
Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene. Genes 8 (10) (2017)