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Taila Hartley

Showing results (21-30 of 86) with videos related to

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Paediatrics & Child Health|February 3, 2026
Integrating paediatric subspecialists into the delivery of genomic medicine: A qualitative studyMichael P Mackley, Salma Shickh, Whiwon Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare CanadaMatthew Osmond, Taila Hartley, David A Dyment, et al.
American Journal of Human Genetics|November 4, 2022
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discoveryKym M Boycott, Taila Hartley, Kristin D Kernohan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 5, 2020
Application of exome sequencing for prenatal diagnosis: a rapid scoping reviewMisty Pratt, Chantelle Garritty, Micere Thuku, et al.
Neurology. Genetics|August 2, 2018
Novel <i>ELOVL4</i> mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)Pierre R Bourque, Jodi Warman-Chardon, Daniel A Lelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2023
Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizationsTaila Hartley, Meredith K Gillespie, Ian D Graham, et al.
Human Molecular Genetics|September 22, 2017
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activationDiana Alcantara, Frances Elmslie, Martine Tetreault, et al.
Neurology. Genetics|January 16, 2019
Lysosomal dysfunction in <i>TMEM106B</i> hypomyelinating leukodystrophyYoko Ito, Taila Hartley, Stephen Baird, et al.
Human Mutation|August 11, 2015
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profilesOrion J Buske, François Schiettecatte, Benjamin Hutton, et al.
Child Neurology Open|November 19, 2021
Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature ReviewDaniel I Weiman, Meredith K Gillespie, Taila Hartley, et al.
Pageof 9

Showing results (21-30 of 86) with videos related to

Sort By:
Pageof 9
Paediatrics & Child Health|February 3, 2026
Integrating paediatric subspecialists into the delivery of genomic medicine: A qualitative studyMichael P Mackley, Salma Shickh, Whiwon Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare CanadaMatthew Osmond, Taila Hartley, David A Dyment, et al.
American Journal of Human Genetics|November 4, 2022
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discoveryKym M Boycott, Taila Hartley, Kristin D Kernohan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 5, 2020
Application of exome sequencing for prenatal diagnosis: a rapid scoping reviewMisty Pratt, Chantelle Garritty, Micere Thuku, et al.
Neurology. Genetics|August 2, 2018
Novel <i>ELOVL4</i> mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)Pierre R Bourque, Jodi Warman-Chardon, Daniel A Lelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2023
Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizationsTaila Hartley, Meredith K Gillespie, Ian D Graham, et al.
Human Molecular Genetics|September 22, 2017
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activationDiana Alcantara, Frances Elmslie, Martine Tetreault, et al.
Neurology. Genetics|January 16, 2019
Lysosomal dysfunction in <i>TMEM106B</i> hypomyelinating leukodystrophyYoko Ito, Taila Hartley, Stephen Baird, et al.
Human Mutation|August 11, 2015
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profilesOrion J Buske, François Schiettecatte, Benjamin Hutton, et al.
Child Neurology Open|November 19, 2021
Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature ReviewDaniel I Weiman, Meredith K Gillespie, Taila Hartley, et al.
Pageof 9