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Isabelle Vandernoot

Showing results (1-10 of 20) with videos related to

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Neurogenetics|January 4, 2021
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief reviewGauthier Remiche, Isabelle Vandernoot, Niloufar Sadeghi-Meibodi, et al.
Neurology. Genetics|April 28, 2020
Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutationMassimo Pandolfo, Myriam Rai, Gauthier Remiche, et al.
European Journal of Internal Medicine|September 24, 2022
Genetic testing in autoinflammatory diseases - past, current and future perspectivesAnouk Le Goueff, Guillaume Smits, Mélanie Delaunoy, et al.
Journal of Neuromuscular Diseases|May 24, 2024
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S GeneMichela Bisciglia, Hazim Kadhim, Sophie Lecomte, et al.
The Journal of Clinical Endocrinology and Metabolism|January 13, 2012
Evidence for calcitonin-producing cells in human lingual thyroidsIsabelle Vandernoot, Hervé Sartelet, Rasha Abu-Khudir, et al.
Case Reports in Neurology|April 21, 2020
A New <i>DARS2</i> Mutation Discovered in an Adult PatientRosy N'Gbo N'Gbo Ikazabo, Christian Mostosi, Patrice Jissendi, et al.
Thyroid : Official Journal of the American Thyroid Association|September 12, 2019
Small-Molecule Screening in Zebrafish Embryos Identifies Signaling Pathways Regulating Early Thyroid DevelopmentBenoit Haerlingen, Robert Opitz, Isabelle Vandernoot, et al.
Thyroid : Official Journal of the American Thyroid Association|August 12, 2020
Enhanced Canonical Wnt Signaling During Early Zebrafish Development Perturbs the Interaction of Cardiac Mesoderm and Pharyngeal Endoderm and Causes Thyroid Specification DefectsIsabelle Vandernoot, Benoît Haerlingen, Pierre Gillotay, et al.
Clinical Genetics|July 29, 2020
Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutationMarta Lamartine S Monteiro, Isabelle Vandernoot, Laurence Desmyter, et al.
European Journal of Human Genetics : EJHG|June 5, 2024
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening programMarta Baptista Freitas, Laurence Desmyter, Cindy Badoer, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Neurogenetics|January 4, 2021
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief reviewGauthier Remiche, Isabelle Vandernoot, Niloufar Sadeghi-Meibodi, et al.
Neurology. Genetics|April 28, 2020
Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutationMassimo Pandolfo, Myriam Rai, Gauthier Remiche, et al.
European Journal of Internal Medicine|September 24, 2022
Genetic testing in autoinflammatory diseases - past, current and future perspectivesAnouk Le Goueff, Guillaume Smits, Mélanie Delaunoy, et al.
Journal of Neuromuscular Diseases|May 24, 2024
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S GeneMichela Bisciglia, Hazim Kadhim, Sophie Lecomte, et al.
The Journal of Clinical Endocrinology and Metabolism|January 13, 2012
Evidence for calcitonin-producing cells in human lingual thyroidsIsabelle Vandernoot, Hervé Sartelet, Rasha Abu-Khudir, et al.
Case Reports in Neurology|April 21, 2020
A New <i>DARS2</i> Mutation Discovered in an Adult PatientRosy N'Gbo N'Gbo Ikazabo, Christian Mostosi, Patrice Jissendi, et al.
Thyroid : Official Journal of the American Thyroid Association|September 12, 2019
Small-Molecule Screening in Zebrafish Embryos Identifies Signaling Pathways Regulating Early Thyroid DevelopmentBenoit Haerlingen, Robert Opitz, Isabelle Vandernoot, et al.
Thyroid : Official Journal of the American Thyroid Association|August 12, 2020
Enhanced Canonical Wnt Signaling During Early Zebrafish Development Perturbs the Interaction of Cardiac Mesoderm and Pharyngeal Endoderm and Causes Thyroid Specification DefectsIsabelle Vandernoot, Benoît Haerlingen, Pierre Gillotay, et al.
Clinical Genetics|July 29, 2020
Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutationMarta Lamartine S Monteiro, Isabelle Vandernoot, Laurence Desmyter, et al.
European Journal of Human Genetics : EJHG|June 5, 2024
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening programMarta Baptista Freitas, Laurence Desmyter, Cindy Badoer, et al.
Pageof 2