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Taila Hartley

Showing results (31-40 of 86) with videos related to

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Human Mutation|February 15, 2022
PhenomeCentral: 7 years of rare disease matchmakingMatthew Osmond, Taila Hartley, Brittney Johnstone, et al.
American Journal of Medical Genetics. Part A|November 4, 2022
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experienceGrace Uwaila Ediae, Gabrielle Lemire, Caitlin Chisholm, et al.
Annals of Neurology|November 26, 2021
Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic ParaplegiaMehrdad A Estiar, Noor Lail, David A Dyment, et al.
Hereditary Cancer in Clinical Practice|September 17, 2014
Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, CanadaTaila Hartley, Luca Cavallone, Nelly Sabbaghian, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple eventsChristine M Armour, Amanda Smith, Taila Hartley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
Correction: The value of diagnostic testing for parents of children with rare genetic diseasesDeborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2026
Clinical Utility of Exome Sequencing: Post-Exome Testing Decision Changes in the Management of Children with Suspected Rare Genetic DiseaseToni Tagimacruz, Trevor Adam Seeger, Koen Degeling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2019
The value of diagnostic testing for parents of children with rare genetic diseasesDeborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseasesDeborah A Marshall, Eric I Benchimol, Alex MacKenzie, et al.
European Journal of Medical Genetics|April 30, 2019
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D typeJudith Zima, Alison Eaton, Endre Pál, et al.
Pageof 9

Showing results (31-40 of 86) with videos related to

Sort By:
Pageof 9
Human Mutation|February 15, 2022
PhenomeCentral: 7 years of rare disease matchmakingMatthew Osmond, Taila Hartley, Brittney Johnstone, et al.
American Journal of Medical Genetics. Part A|November 4, 2022
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experienceGrace Uwaila Ediae, Gabrielle Lemire, Caitlin Chisholm, et al.
Annals of Neurology|November 26, 2021
Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic ParaplegiaMehrdad A Estiar, Noor Lail, David A Dyment, et al.
Hereditary Cancer in Clinical Practice|September 17, 2014
Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, CanadaTaila Hartley, Luca Cavallone, Nelly Sabbaghian, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple eventsChristine M Armour, Amanda Smith, Taila Hartley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
Correction: The value of diagnostic testing for parents of children with rare genetic diseasesDeborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2026
Clinical Utility of Exome Sequencing: Post-Exome Testing Decision Changes in the Management of Children with Suspected Rare Genetic DiseaseToni Tagimacruz, Trevor Adam Seeger, Koen Degeling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2019
The value of diagnostic testing for parents of children with rare genetic diseasesDeborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseasesDeborah A Marshall, Eric I Benchimol, Alex MacKenzie, et al.
European Journal of Medical Genetics|April 30, 2019
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D typeJudith Zima, Alison Eaton, Endre Pál, et al.
Pageof 9