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Isabelle Thiffault

Showing results (21-30 of 139) with videos related to

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American Journal of Medical Genetics. Part A|December 24, 2017
Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathiesAtif A Ahmed, Priya Skaria, Nicole P Safina, et al.
American Journal of Human Genetics|January 20, 2023
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencingXiao Chen, John Harting, Emily Farrow, et al.
American Journal of Medical Genetics. Part A|March 27, 2016
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variantIsabelle Thiffault, Emily Farrow, Laurie Smith, et al.
Neurology. Genetics|May 1, 2026
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency DisorderQuentin Sabbagh, Felipe Villa Tobón, Zahra Kazemi, et al.
American Journal of Medical Genetics. Part A|August 7, 2023
Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseqEmily Farrow, Allison Jay, John Means, et al.
Orphanet Journal of Rare Diseases|July 13, 2023
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literatureAna Potic, Stefanie Perrier, Tijana Radovic, et al.
Cold Spring Harbor Molecular Case Studies|May 3, 2020
Pathogenic variants in <i>KPTN</i> gene identified by clinical whole-genome sequencingIsabelle Thiffault, Andrea Atherton, Bryce A Heese, et al.
Journal of Child Neurology|November 30, 2018
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative DiseaseAndrea Accogli, Kether Guerrero, Maria Daniela D'Agostino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2018
Clinical genome sequencing in an unbiased pediatric cohortIsabelle Thiffault, Emily Farrow, Lee Zellmer, et al.
Familial Cancer|March 11, 2006
The value of multi-modal gene screening in HNPCC in Quebec: three mutations in mismatch repair genes that would have not been correctly identified by genomic DNA sequencing aloneSusan McVety, Lili Li, Isabelle Thiffault, et al.
Pageof 14

Showing results (21-30 of 139) with videos related to

Sort By:
Pageof 14
American Journal of Medical Genetics. Part A|December 24, 2017
Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathiesAtif A Ahmed, Priya Skaria, Nicole P Safina, et al.
American Journal of Human Genetics|January 20, 2023
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencingXiao Chen, John Harting, Emily Farrow, et al.
American Journal of Medical Genetics. Part A|March 27, 2016
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variantIsabelle Thiffault, Emily Farrow, Laurie Smith, et al.
Neurology. Genetics|May 1, 2026
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency DisorderQuentin Sabbagh, Felipe Villa Tobón, Zahra Kazemi, et al.
American Journal of Medical Genetics. Part A|August 7, 2023
Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseqEmily Farrow, Allison Jay, John Means, et al.
Orphanet Journal of Rare Diseases|July 13, 2023
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literatureAna Potic, Stefanie Perrier, Tijana Radovic, et al.
Cold Spring Harbor Molecular Case Studies|May 3, 2020
Pathogenic variants in <i>KPTN</i> gene identified by clinical whole-genome sequencingIsabelle Thiffault, Andrea Atherton, Bryce A Heese, et al.
Journal of Child Neurology|November 30, 2018
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative DiseaseAndrea Accogli, Kether Guerrero, Maria Daniela D'Agostino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2018
Clinical genome sequencing in an unbiased pediatric cohortIsabelle Thiffault, Emily Farrow, Lee Zellmer, et al.
Familial Cancer|March 11, 2006
The value of multi-modal gene screening in HNPCC in Quebec: three mutations in mismatch repair genes that would have not been correctly identified by genomic DNA sequencing aloneSusan McVety, Lili Li, Isabelle Thiffault, et al.
Pageof 14