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Isabelle Thiffault

Showing results (1-10 of 139) with videos related to

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Pediatrics|January 6, 2016
The Challenge of Analyzing the Results of Next-Generation Sequencing in ChildrenIsabelle Thiffault, John Lantos
European Journal of Medical Genetics|August 19, 2016
Expert opinion and caution are imperative for interpretation of next generation sequencing dataIsabelle Thiffault, Geneviève Bernard
Frontiers in Pediatrics|May 5, 2017
Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ SyndromeDaniel Mettman, Isabelle Thiffault, Chitra Dinakar, et al.
Orthodontics & Craniofacial Research|May 11, 2019
Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental careEmily Farrow, Shankar Rengasamy Venugopalan, Isabelle Thiffault, et al.
Human Mutation|April 17, 2012
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemiaFlorin Sasarman, Tamiko Nishimura, Isabelle Thiffault, et al.
Child Neurology Open|June 7, 2023
A Recurrent Julia Macintosh, Isabelle Thiffault, Tomi Pastinen, et al.
Pediatrics|February 18, 2022
EPHB4 Mutation Suppresses PROX1 Expression and Disrupts Lymphatic Development in Neonatal HydropsGangaram Akangire, Heather Menden, Sheng Xia, et al.
Prenatal Diagnosis|October 28, 2014
Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition-clinical report and review of the literatureCatalina Maftei, Françoise Rypens, Isabelle Thiffault, et al.
Circulation. Genomic and Precision Medicine|February 1, 2020
<i>LZTR1</i>-Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome FeaturesJanda Jenkins, Aliessa Barnes, Brian Birnbaum, et al.
WMJ : Official Publication of the State Medical Society of Wisconsin|April 22, 2025
Association of Rare Variants in Kidney Developmental Genes With Chronic Kidney Disease and Blood Pressure: A UK Biobank StudyBenjamin L Spector, Byunggil Yoo, Neil Miller, et al.
Pageof 14

Showing results (1-10 of 139) with videos related to

Sort By:
Pageof 14
Pediatrics|January 6, 2016
The Challenge of Analyzing the Results of Next-Generation Sequencing in ChildrenIsabelle Thiffault, John Lantos
European Journal of Medical Genetics|August 19, 2016
Expert opinion and caution are imperative for interpretation of next generation sequencing dataIsabelle Thiffault, Geneviève Bernard
Frontiers in Pediatrics|May 5, 2017
Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ SyndromeDaniel Mettman, Isabelle Thiffault, Chitra Dinakar, et al.
Orthodontics & Craniofacial Research|May 11, 2019
Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental careEmily Farrow, Shankar Rengasamy Venugopalan, Isabelle Thiffault, et al.
Human Mutation|April 17, 2012
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemiaFlorin Sasarman, Tamiko Nishimura, Isabelle Thiffault, et al.
Child Neurology Open|June 7, 2023
A Recurrent Julia Macintosh, Isabelle Thiffault, Tomi Pastinen, et al.
Pediatrics|February 18, 2022
EPHB4 Mutation Suppresses PROX1 Expression and Disrupts Lymphatic Development in Neonatal HydropsGangaram Akangire, Heather Menden, Sheng Xia, et al.
Prenatal Diagnosis|October 28, 2014
Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition-clinical report and review of the literatureCatalina Maftei, Françoise Rypens, Isabelle Thiffault, et al.
Circulation. Genomic and Precision Medicine|February 1, 2020
<i>LZTR1</i>-Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome FeaturesJanda Jenkins, Aliessa Barnes, Brian Birnbaum, et al.
WMJ : Official Publication of the State Medical Society of Wisconsin|April 22, 2025
Association of Rare Variants in Kidney Developmental Genes With Chronic Kidney Disease and Blood Pressure: A UK Biobank StudyBenjamin L Spector, Byunggil Yoo, Neil Miller, et al.
Pageof 14