Rosario A. Santos

Centro De Genética Médica Dr. Jacinto Magalhães
Santo Antonio De Felheiros, Portugal

Last Updated: 09/26/2026

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Found 57 publications

FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition.

FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition.

Journal: Journal of human genetics

Published: July 23, 2025

A novel CFTR-AQP7 protein complex regulates glycerol transport and motility of human sperm.

A novel CFTR-AQP7 protein complex regulates glycerol transport and motility of human sperm.

Journal: Human reproduction (Oxford, England)

Published: May 02, 2025

FMR1 Allelic Complexity and IVF Fertilization Success: Limitations and Future Perspectives.

FMR1 Allelic Complexity and IVF Fertilization Success: Limitations and Future Perspectives.

Journal: International journal of molecular sciences

Published: April 06, 2025

A new case of platelet-type von Willebrand disease supports the recent findings of gain-of-function GP1BA variants outside the C-terminal disulphide loop enhances affinity for von Willebrand factor.

A new case of platelet-type von Willebrand disease supports the recent findings of gain-of-function GP1BA variants outside the C-terminal disulphide loop enhances affinity for von Willebrand factor.

Journal: British journal of haematology

Published: April 28, 2023

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

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

Journal: International journal of molecular sciences

Published: August 05, 2022

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Journal: American journal of medical genetics. Part A

Published: May 05, 2022

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

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

Journal: Genes

Published: January 31, 2022

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

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

Journal: International journal of molecular sciences

Published: November 27, 2021

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

Journal: Genes

Published: November 19, 2021

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

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

Journal: International journal of molecular sciences

Published: October 01, 2021

Evaluation of the Potential of Marine Algae Extracts as a Source of Functional Ingredients Using Zebrafish as Animal Model for Aquaculture.

Evaluation of the Potential of Marine Algae Extracts as a Source of Functional Ingredients Using Zebrafish as Animal Model for Aquaculture.

Journal: Marine biotechnology (New York, N.Y.)

Published: March 31, 2021

Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.

Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.

Journal: Scientific reports

Published: December 10, 2020

Showing 1-12 of 57

Last Updated: 09/26/2026