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Isabelle Thiffault

Showing results (41-50 of 139) with videos related to

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Frontiers in Neurology|April 20, 2023
Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencingStefanie Perrier, Kether Guerrero, Luan T Tran, et al.
American Journal of Human Genetics|April 18, 2024
Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populationsAna S A Cohen, Courtney D Berrios, Tricia N Zion, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 21, 2009
Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuliMarco L Loggia, M Catherine Bushnell, Martine Tétreault, et al.
Neurogenetics|July 20, 2010
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31Geneviève Bernard, Isabelle Thiffault, Martine Tetreault, et al.
Orphanet Journal of Rare Diseases|June 6, 2015
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophyMariana Gutierrez, Isabelle Thiffault, Kether Guerrero, et al.
Human Molecular Genetics|February 6, 2015
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, et al.
The Journal of Pediatrics|July 7, 2024
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular PhenotypesErica Sanford Kobayashi, Nava Shaul Lotan, Yael Dinur Schejter, et al.
Brain : a Journal of Neurology|December 1, 2010
A mutation in the RNF170 gene causes autosomal dominant sensory ataxiaPaul N Valdmanis, Nicolas Dupré, Mathieu Lachance, et al.
Clinical Genetics|May 9, 2022
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case seriesMaxime Cadieux-Dion, Emily Farrow, Isabelle Thiffault, et al.
Frontiers in Immunology|November 23, 2016
Diagnostics of Primary Immunodeficiencies through Next-Generation SequencingVera Gallo, Laura Dotta, Giuliana Giardino, et al.
Pageof 14

Showing results (41-50 of 139) with videos related to

Sort By:
Pageof 14
Frontiers in Neurology|April 20, 2023
Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencingStefanie Perrier, Kether Guerrero, Luan T Tran, et al.
American Journal of Human Genetics|April 18, 2024
Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populationsAna S A Cohen, Courtney D Berrios, Tricia N Zion, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 21, 2009
Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuliMarco L Loggia, M Catherine Bushnell, Martine Tétreault, et al.
Neurogenetics|July 20, 2010
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31Geneviève Bernard, Isabelle Thiffault, Martine Tetreault, et al.
Orphanet Journal of Rare Diseases|June 6, 2015
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophyMariana Gutierrez, Isabelle Thiffault, Kether Guerrero, et al.
Human Molecular Genetics|February 6, 2015
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, et al.
The Journal of Pediatrics|July 7, 2024
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular PhenotypesErica Sanford Kobayashi, Nava Shaul Lotan, Yael Dinur Schejter, et al.
Brain : a Journal of Neurology|December 1, 2010
A mutation in the RNF170 gene causes autosomal dominant sensory ataxiaPaul N Valdmanis, Nicolas Dupré, Mathieu Lachance, et al.
Clinical Genetics|May 9, 2022
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case seriesMaxime Cadieux-Dion, Emily Farrow, Isabelle Thiffault, et al.
Frontiers in Immunology|November 23, 2016
Diagnostics of Primary Immunodeficiencies through Next-Generation SequencingVera Gallo, Laura Dotta, Giuliana Giardino, et al.
Pageof 14