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Isabelle Thiffault

Showing results (51-60 of 139) with videos related to

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BMC Medical Genetics|November 23, 2016
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotypeFlorian Job, Shuji Mizumoto, Laurie Smith, et al.
BMC Medical Genetics|May 8, 2015
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromesIsabelle Thiffault, Carol Saunders, Janda Jenkins, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Nature Communications|September 18, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Human Mutation|December 17, 2014
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseCarol J Saunders, Sung Ho Moon, Xinping Liu, et al.
European Journal of Human Genetics : EJHG|November 20, 2014
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndromeJulie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, et al.
Brain : a Journal of Neurology|December 12, 2017
POLR3A variants in hereditary spastic paraplegia and ataxiaLaurence Gauquelin, Martine Tétreault, Isabelle Thiffault, et al.
The Journal of General Physiology|October 28, 2015
A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localizationIsabelle Thiffault, David J Speca, Daniel C Austin, et al.
Clinical Chemistry|July 23, 2022
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing TechnologiesLisa A Lansdon, Maxime Cadieux-Dion, John C Herriges, et al.
NPJ Genomic Medicine|December 22, 2017
Clinical detection of deletion structural variants in whole-genome sequencesAaron C Noll, Neil A Miller, Laurie D Smith, et al.
Pageof 14

Showing results (51-60 of 139) with videos related to

Sort By:
Pageof 14
BMC Medical Genetics|November 23, 2016
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotypeFlorian Job, Shuji Mizumoto, Laurie Smith, et al.
BMC Medical Genetics|May 8, 2015
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromesIsabelle Thiffault, Carol Saunders, Janda Jenkins, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Nature Communications|September 18, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Human Mutation|December 17, 2014
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseCarol J Saunders, Sung Ho Moon, Xinping Liu, et al.
European Journal of Human Genetics : EJHG|November 20, 2014
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndromeJulie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, et al.
Brain : a Journal of Neurology|December 12, 2017
POLR3A variants in hereditary spastic paraplegia and ataxiaLaurence Gauquelin, Martine Tétreault, Isabelle Thiffault, et al.
The Journal of General Physiology|October 28, 2015
A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localizationIsabelle Thiffault, David J Speca, Daniel C Austin, et al.
Clinical Chemistry|July 23, 2022
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing TechnologiesLisa A Lansdon, Maxime Cadieux-Dion, John C Herriges, et al.
NPJ Genomic Medicine|December 22, 2017
Clinical detection of deletion structural variants in whole-genome sequencesAaron C Noll, Neil A Miller, Laurie D Smith, et al.
Pageof 14