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Rosário Santos

Showing results (1-10 of 60) with videos related to

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Blood Cells, Molecules & Diseases|October 6, 2007
Hematologically important mutations: Shwachman-Diamond syndromeElísio Costa, Rosário Santos
BMC Medical Genetics|August 7, 2013
Development and validation of a multiplex-PCR assay for X-linked intellectual disabilityPaula Jorge, Bárbara Oliveira, Isabel Marques, et al.
Genetic Testing and Molecular Biomarkers|February 19, 2011
New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophyMiguel Gonçalves-Rocha, Jorge Oliveira, Luísa Rodrigues, et al.
Journal of Clinical Neuromuscular Disease|May 25, 2013
A family with 2 different hereditary diseases leading to early cardiac involvementHipólito Nzwalo, Isabel Conceição, Pedro Pereira, et al.
British Journal of Haematology|August 18, 2023
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 factorCatarina Monteiro, Ana Gonçalves, Mónica Pereira, et al.
Advances in Medical Sciences|December 14, 2019
Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enoughRute Pereira, Telma Barbosa, Ângela Alves, et al.
Cureus|January 21, 2025
Thoracic Hybrid Lesion: A Rare Case of Two Congenital MalformationsMaria I Bertão, Sara Fontaínhas, Rosário Santos Silva, et al.
Journal of Assisted Reproduction and Genetics|April 17, 2015
Mutation analysis in patients with total sperm immotilityRute Pereira, Jorge Oliveira, Luis Ferraz, et al.
Human Mutation|November 5, 2013
Variobox: automatic detection and annotation of human genetic variantsPaulo Gaspar, Pedro Lopes, Jorge Oliveira, et al.
Pediatric Neurology|June 22, 2014
Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three casesJoão Rocha, Ricardo Taipa, Manuel Melo Pires, et al.
Pageof 6

Showing results (1-10 of 60) with videos related to

Sort By:
Pageof 6
Blood Cells, Molecules & Diseases|October 6, 2007
Hematologically important mutations: Shwachman-Diamond syndromeElísio Costa, Rosário Santos
BMC Medical Genetics|August 7, 2013
Development and validation of a multiplex-PCR assay for X-linked intellectual disabilityPaula Jorge, Bárbara Oliveira, Isabel Marques, et al.
Genetic Testing and Molecular Biomarkers|February 19, 2011
New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophyMiguel Gonçalves-Rocha, Jorge Oliveira, Luísa Rodrigues, et al.
Journal of Clinical Neuromuscular Disease|May 25, 2013
A family with 2 different hereditary diseases leading to early cardiac involvementHipólito Nzwalo, Isabel Conceição, Pedro Pereira, et al.
British Journal of Haematology|August 18, 2023
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 factorCatarina Monteiro, Ana Gonçalves, Mónica Pereira, et al.
Advances in Medical Sciences|December 14, 2019
Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enoughRute Pereira, Telma Barbosa, Ângela Alves, et al.
Cureus|January 21, 2025
Thoracic Hybrid Lesion: A Rare Case of Two Congenital MalformationsMaria I Bertão, Sara Fontaínhas, Rosário Santos Silva, et al.
Journal of Assisted Reproduction and Genetics|April 17, 2015
Mutation analysis in patients with total sperm immotilityRute Pereira, Jorge Oliveira, Luis Ferraz, et al.
Human Mutation|November 5, 2013
Variobox: automatic detection and annotation of human genetic variantsPaulo Gaspar, Pedro Lopes, Jorge Oliveira, et al.
Pediatric Neurology|June 22, 2014
Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three casesJoão Rocha, Ricardo Taipa, Manuel Melo Pires, et al.
Pageof 6