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Kym M Boycott

Showing results (51-60 of 239) with videos related to

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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.
Neuromuscular Disorders : NMD|August 24, 2015
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2Justin D Wagner, Lijia Huang, Martine Tetreault, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2020
Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomaliesChunmei Li, Stacey Vandersluis, Corinne Holubowich, 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.
American Journal of Medical Genetics. Part A|September 24, 2018
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disordersAlison Eaton, Francois P Bernier, Caitlin Goedhart, et al.
BMC Neurology|February 1, 2014
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndromeLaura M McDonell, Jodi Warman Chardon, Jeremy Schwartzentruber, et al.
Clinical Dysmorphology|September 6, 2007
Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosisShashirekha Shetty, Kym M Boycott, Tanya L Gillan, et al.
Journal of Medical Ethics|December 21, 2013
Returning incidental findings from genetic research to children: views of parents of children affected by rare diseasesErika Kleiderman, Bartha Maria Knoppers, Conrad V Fernandez, et al.
Clinical Epigenetics|September 8, 2016
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsyKristin D Kernohan, Laila Cigana Schenkel, Lijia Huang, et al.
Pageof 24

Showing results (51-60 of 239) with videos related to

Sort By:
Pageof 24
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.
Neuromuscular Disorders : NMD|August 24, 2015
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2Justin D Wagner, Lijia Huang, Martine Tetreault, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2020
Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomaliesChunmei Li, Stacey Vandersluis, Corinne Holubowich, 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.
American Journal of Medical Genetics. Part A|September 24, 2018
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disordersAlison Eaton, Francois P Bernier, Caitlin Goedhart, et al.
BMC Neurology|February 1, 2014
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndromeLaura M McDonell, Jodi Warman Chardon, Jeremy Schwartzentruber, et al.
Clinical Dysmorphology|September 6, 2007
Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosisShashirekha Shetty, Kym M Boycott, Tanya L Gillan, et al.
Journal of Medical Ethics|December 21, 2013
Returning incidental findings from genetic research to children: views of parents of children affected by rare diseasesErika Kleiderman, Bartha Maria Knoppers, Conrad V Fernandez, et al.
Clinical Epigenetics|September 8, 2016
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsyKristin D Kernohan, Laila Cigana Schenkel, Lijia Huang, et al.
Pageof 24