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Raquel Rabionet

Showing results (41-50 of 63) with videos related to

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Journal of Medical Genetics|October 15, 2022
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, et al.
Arthritis and Rheumatism|March 15, 2011
Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysisElisa Docampo, Emiliano Giardina, Eva Riveira-Muñoz, et al.
Journal of Molecular Medicine (Berlin, Germany)|March 22, 2002
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patientsMarie Wattenhofer, Mario Vincenzo Di Iorio, Raquel Rabionet, et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism|March 29, 2012
TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approachesTiago Krug, João Paulo Gabriel, Ricardo Taipa, et al.
Stroke|June 11, 2025
Rare Variant Association Analysis Uncovers Involvement of <i>VNN2</i> in Stroke OutcomeEstefanía Alcaide-Consuegra, Marina Mola-Caminal, Georgia Escaramís, et al.
Pediatric Neurology|April 3, 2024
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature ReviewCarmen Palma-Milla, Aina Prat-Planas, Emma Soengas-Gonda, et al.
Human Mutation|June 1, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryRaman Kumar, Alison Gardner, Claire C Homan, et al.
Journal of Clinical Immunology|July 17, 2020
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 MutationsAndrea Martín-Nalda, Claudia Fortuny, Lourdes Rey, et al.
Annals of Neurology|November 10, 2010
Variants at APOE influence risk of deep and lobar intracerebral hemorrhageAlessandro Biffi, Akshata Sonni, Christopher D Anderson, et al.
The Lancet. Neurology|July 12, 2011
APOE genotype and extent of bleeding and outcome in lobar intracerebral haemorrhage: a genetic association studyAlessandro Biffi, Christopher D Anderson, Jeremiasz M Jagiella, et al.
Pageof 7

Showing results (41-50 of 63) with videos related to

Sort By:
Pageof 7
Journal of Medical Genetics|October 15, 2022
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, et al.
Arthritis and Rheumatism|March 15, 2011
Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysisElisa Docampo, Emiliano Giardina, Eva Riveira-Muñoz, et al.
Journal of Molecular Medicine (Berlin, Germany)|March 22, 2002
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patientsMarie Wattenhofer, Mario Vincenzo Di Iorio, Raquel Rabionet, et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism|March 29, 2012
TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approachesTiago Krug, João Paulo Gabriel, Ricardo Taipa, et al.
Stroke|June 11, 2025
Rare Variant Association Analysis Uncovers Involvement of <i>VNN2</i> in Stroke OutcomeEstefanía Alcaide-Consuegra, Marina Mola-Caminal, Georgia Escaramís, et al.
Pediatric Neurology|April 3, 2024
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature ReviewCarmen Palma-Milla, Aina Prat-Planas, Emma Soengas-Gonda, et al.
Human Mutation|June 1, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryRaman Kumar, Alison Gardner, Claire C Homan, et al.
Journal of Clinical Immunology|July 17, 2020
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 MutationsAndrea Martín-Nalda, Claudia Fortuny, Lourdes Rey, et al.
Annals of Neurology|November 10, 2010
Variants at APOE influence risk of deep and lobar intracerebral hemorrhageAlessandro Biffi, Akshata Sonni, Christopher D Anderson, et al.
The Lancet. Neurology|July 12, 2011
APOE genotype and extent of bleeding and outcome in lobar intracerebral haemorrhage: a genetic association studyAlessandro Biffi, Christopher D Anderson, Jeremiasz M Jagiella, et al.
Pageof 7