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Ida Paramonov

Showing results (11-20 of 33) with videos related to

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Journal of Neuromuscular Diseases|May 17, 2024
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial DiseaseCatarina Olimpio, Ida Paramonov, Leslie Matalonga, et al.
Frontiers in Immunology|March 3, 2020
Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic CounselingJacques G Rivière, Clara Franco-Jarava, Mónica Martínez-Gallo, et al.
European Journal of Human Genetics : EJHG|November 5, 2023
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological reportDavid Lagorce, Emeline Lebreton, Leslie Matalonga, et al.
Journal of Medical Genetics|April 29, 2021
A systematic study and literature review of parental somatic mosaicism of <i>FBN1</i> pathogenic variants in Marfan syndromePaula Fernández-Álvarez, Marta Codina-Sola, Irene Valenzuela, et al.
Aging Cell|October 11, 2011
Increased dosage of tumor suppressors limits the tumorigenicity of iPS cells without affecting their pluripotencySergio Menendez, Suzanne Camus, Aida Herreria, et al.
Annals of Neurology|September 11, 2019
Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0"Rodrigo H Mendonça, Antônio J Rocha, Andres Lozano-Arango, et al.
The Journal of Clinical Endocrinology and Metabolism|October 8, 2020
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic ThyroidNúria Camats, Noelia Baz-Redón, Mónica Fernández-Cancio, et al.
Annals of Neurology|July 14, 2019
Severe brain involvement in 5q spinal muscular atrophy type 0Rodrigo H Mendonça, Antônio J Rocha, Andres Lozano-Arango, et al.
Clinical Immunology (Orlando, Fla.)|August 1, 2018
Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestationsRomina Dieli-Crimi, Mónica Martínez-Gallo, Clara Franco-Jarava, et al.
Nature Communications|October 6, 2022
A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genomeIeva Keraite, Philipp Becker, Davide Canevazzi, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Journal of Neuromuscular Diseases|May 17, 2024
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial DiseaseCatarina Olimpio, Ida Paramonov, Leslie Matalonga, et al.
Frontiers in Immunology|March 3, 2020
Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic CounselingJacques G Rivière, Clara Franco-Jarava, Mónica Martínez-Gallo, et al.
European Journal of Human Genetics : EJHG|November 5, 2023
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological reportDavid Lagorce, Emeline Lebreton, Leslie Matalonga, et al.
Journal of Medical Genetics|April 29, 2021
A systematic study and literature review of parental somatic mosaicism of <i>FBN1</i> pathogenic variants in Marfan syndromePaula Fernández-Álvarez, Marta Codina-Sola, Irene Valenzuela, et al.
Aging Cell|October 11, 2011
Increased dosage of tumor suppressors limits the tumorigenicity of iPS cells without affecting their pluripotencySergio Menendez, Suzanne Camus, Aida Herreria, et al.
Annals of Neurology|September 11, 2019
Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0"Rodrigo H Mendonça, Antônio J Rocha, Andres Lozano-Arango, et al.
The Journal of Clinical Endocrinology and Metabolism|October 8, 2020
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic ThyroidNúria Camats, Noelia Baz-Redón, Mónica Fernández-Cancio, et al.
Annals of Neurology|July 14, 2019
Severe brain involvement in 5q spinal muscular atrophy type 0Rodrigo H Mendonça, Antônio J Rocha, Andres Lozano-Arango, et al.
Clinical Immunology (Orlando, Fla.)|August 1, 2018
Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestationsRomina Dieli-Crimi, Mónica Martínez-Gallo, Clara Franco-Jarava, et al.
Nature Communications|October 6, 2022
A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genomeIeva Keraite, Philipp Becker, Davide Canevazzi, et al.
Pageof 4