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Isabelle Thiffault

Showing results (31-40 of 139) with videos related to

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BMC Medical Genetics|November 4, 2017
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related diseaseIsabelle Thiffault, Britton Zuccarelli, Holly Welsh, et al.
BMC Medical Genetics|March 11, 2018
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case reportMaxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, et al.
Human Mutation|December 28, 2021
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotypeSimon Lebaron, Marie-Françoise O'Donohue, Scott C Smith, et al.
Frontiers in Neurology|November 2, 2023
Biallelic pathogenic variants in <i>POLR3D</i> alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case reportJulia Macintosh, Stefanie Perrier, Maxime Pinard, et al.
American Journal of Human Genetics|January 20, 2015
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaCarol Saunders, Laurie Smith, Flemming Wibrand, et al.
Neurogenetics|June 22, 2014
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathyAlireza Kashani, Isabelle Thiffault, Marie-Emmanuelle Dilenge, et al.
Nature Communications|January 22, 2024
Pangenome graphs improve the analysis of structural variants in rare genetic diseasesCristian Groza, Carl Schwendinger-Schreck, Warren A Cheung, et al.
The Journal of Allergy and Clinical Immunology|December 4, 2015
Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitisGiuliana Giardino, Vera Gallo, Domenico Somma, et al.
Human Mutation|April 14, 2025
Novel Pathogenic Variants in <i>POLR3K</i> Cause POLR3-Related LeukodystrophyStefanie Perrier, Julia Macintosh, Agata D Misiaszek, et al.
Neuromuscular Disorders : NMD|May 31, 2008
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians clusterIsabelle Gosselin, Isabelle Thiffault, Martine Tétreault, et al.
Pageof 14

Showing results (31-40 of 139) with videos related to

Sort By:
Pageof 14
BMC Medical Genetics|November 4, 2017
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related diseaseIsabelle Thiffault, Britton Zuccarelli, Holly Welsh, et al.
BMC Medical Genetics|March 11, 2018
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case reportMaxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, et al.
Human Mutation|December 28, 2021
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotypeSimon Lebaron, Marie-Françoise O'Donohue, Scott C Smith, et al.
Frontiers in Neurology|November 2, 2023
Biallelic pathogenic variants in <i>POLR3D</i> alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case reportJulia Macintosh, Stefanie Perrier, Maxime Pinard, et al.
American Journal of Human Genetics|January 20, 2015
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaCarol Saunders, Laurie Smith, Flemming Wibrand, et al.
Neurogenetics|June 22, 2014
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathyAlireza Kashani, Isabelle Thiffault, Marie-Emmanuelle Dilenge, et al.
Nature Communications|January 22, 2024
Pangenome graphs improve the analysis of structural variants in rare genetic diseasesCristian Groza, Carl Schwendinger-Schreck, Warren A Cheung, et al.
The Journal of Allergy and Clinical Immunology|December 4, 2015
Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitisGiuliana Giardino, Vera Gallo, Domenico Somma, et al.
Human Mutation|April 14, 2025
Novel Pathogenic Variants in <i>POLR3K</i> Cause POLR3-Related LeukodystrophyStefanie Perrier, Julia Macintosh, Agata D Misiaszek, et al.
Neuromuscular Disorders : NMD|May 31, 2008
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians clusterIsabelle Gosselin, Isabelle Thiffault, Martine Tétreault, et al.
Pageof 14