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Anne-Marie Laberge

Showing results (81-90 of 93) with videos related to

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Journal of Medical Genetics|May 9, 2015
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical GeneticistsKym Boycott, Taila Hartley, Shelin Adam, et al.
Genetics in Medicine Open|October 15, 2025
How does personal utility depend on clinical setting? Evidence from 3 cohortsElise Poole, Stephanie Luca, Daniel Assamad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2021
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohortAlexandra Scott, Niccolò Di Giosaffatte, Valentina Pinna, et al.
Orphanet Journal of Rare Diseases|December 9, 2016
Experiences of caregivers of children with inherited metabolic diseases: a qualitative studyShabnaz Siddiq, Brenda J Wilson, Ian D Graham, et al.
Orphanet Journal of Rare Diseases|March 24, 2019
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, CanadaMaria D Karaceper, Sara D Khangura, Kumanan Wilson, et al.
JIMD Reports|February 27, 2015
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in CanadaMonica F Lamoureux, Kylie Tingley, Jonathan B Kronick, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|September 17, 2020
A Novel Recurrent <i>COL5A1</i> Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular DysplasiaJulie Richer, Hannah L Hill, Yu Wang, et al.
American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
BMJ Open|September 4, 2024
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populationsGuylaine D'Amours, Marc Clausen, Stephanie Luca, et al.
Nature Communications|February 3, 2026
A multi-ancestry genetic reference for the Quebec populationPeyton McClelland, Georgette Femerling, Rose Laflamme, et al.
Pageof 10

Showing results (81-90 of 93) with videos related to

Sort By:
Pageof 10
Journal of Medical Genetics|May 9, 2015
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical GeneticistsKym Boycott, Taila Hartley, Shelin Adam, et al.
Genetics in Medicine Open|October 15, 2025
How does personal utility depend on clinical setting? Evidence from 3 cohortsElise Poole, Stephanie Luca, Daniel Assamad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2021
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohortAlexandra Scott, Niccolò Di Giosaffatte, Valentina Pinna, et al.
Orphanet Journal of Rare Diseases|December 9, 2016
Experiences of caregivers of children with inherited metabolic diseases: a qualitative studyShabnaz Siddiq, Brenda J Wilson, Ian D Graham, et al.
Orphanet Journal of Rare Diseases|March 24, 2019
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, CanadaMaria D Karaceper, Sara D Khangura, Kumanan Wilson, et al.
JIMD Reports|February 27, 2015
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in CanadaMonica F Lamoureux, Kylie Tingley, Jonathan B Kronick, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|September 17, 2020
A Novel Recurrent <i>COL5A1</i> Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular DysplasiaJulie Richer, Hannah L Hill, Yu Wang, et al.
American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
BMJ Open|September 4, 2024
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populationsGuylaine D'Amours, Marc Clausen, Stephanie Luca, et al.
Nature Communications|February 3, 2026
A multi-ancestry genetic reference for the Quebec populationPeyton McClelland, Georgette Femerling, Rose Laflamme, et al.
Pageof 10