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Kym M Boycott

Showing results (81-90 of 239) with videos related to

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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.
American Journal of Medical Genetics. Part A|November 3, 2023
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literaturePriya T Bhola, Radha Mishra, Jennifer E Posey, 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.
Human Molecular Genetics|June 19, 2015
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathySarah L Sawyer, Andy Cheuk-Him Ng, A Micheil Innes, 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.
Molecular Genetics & Genomic Medicine|January 24, 2015
Complex genomic rearrangements in the dystrophin gene due to replication-based mechanismsBerivan Baskin, Dimitri J Stavropoulos, Paige A Rebeiro, et al.
American Journal of Human Genetics|August 5, 2005
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplificationKym M Boycott, Shauna Flavelle, Alexandre Bureau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidenceRobin Z Hayeems, Christine Michaels-Igbokwe, Viji Venkataramanan, et al.
Pageof 24

Showing results (81-90 of 239) with videos related to

Sort By:
Pageof 24
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.
American Journal of Medical Genetics. Part A|November 3, 2023
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literaturePriya T Bhola, Radha Mishra, Jennifer E Posey, 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.
Human Molecular Genetics|June 19, 2015
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathySarah L Sawyer, Andy Cheuk-Him Ng, A Micheil Innes, 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.
Molecular Genetics & Genomic Medicine|January 24, 2015
Complex genomic rearrangements in the dystrophin gene due to replication-based mechanismsBerivan Baskin, Dimitri J Stavropoulos, Paige A Rebeiro, et al.
American Journal of Human Genetics|August 5, 2005
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplificationKym M Boycott, Shauna Flavelle, Alexandre Bureau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidenceRobin Z Hayeems, Christine Michaels-Igbokwe, Viji Venkataramanan, et al.
Pageof 24