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Kym M Boycott

Showing results (21-30 of 239) with videos related to

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American Journal of Medical Genetics. Part A|November 21, 2012
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutationMichael Reschen, Usha Kini, Rebecca L Hood, et al.
Annual Review of Medicine|January 16, 2014
Identification of genes for childhood heritable diseasesKym M Boycott, David A Dyment, Sarah L Sawyer, et al.
Annual Review of Genomics and Human Genetics|April 15, 2020
New Diagnostic Approaches for Undiagnosed Rare Genetic DiseasesTaila Hartley, Gabrielle Lemire, Kristin D Kernohan, et al.
Neurology. Genetics|April 12, 2016
Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblingsPatrick Ferreira, Stephanie M Luco, Sarah L Sawyer, et al.
European Journal of Medical Genetics|May 10, 2019
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1FEndre Pál, Judith Zima, Kinga Hadzsiev, et al.
Human Mutation|December 2, 2017
Evaluation of exome filtering techniques for the analysis of clinically relevant genesKristin D Kernohan, Taila Hartley, Najmeh Alirezaie, et al.
American Journal of Medical Genetics. Part A|July 17, 2009
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individualsMelissa T Carter, Stephanie A St Pierre, Elaine H Zackai, et al.
Journal of Human Genetics|February 24, 2017
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1Priya T Bhola, Taila Hartley, Eric Bareke, et al.
BMJ Open|October 10, 2022
Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluationRobin Z Hayeems, Francois Bernier, Kym M Boycott, et al.
American Journal of Medical Genetics. Part A|March 7, 2019
Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosisDanielle K Bourque, Mireille Cloutier, Kristin D Kernohan, et al.
Pageof 24

Showing results (21-30 of 239) with videos related to

Sort By:
Pageof 24
American Journal of Medical Genetics. Part A|November 21, 2012
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutationMichael Reschen, Usha Kini, Rebecca L Hood, et al.
Annual Review of Medicine|January 16, 2014
Identification of genes for childhood heritable diseasesKym M Boycott, David A Dyment, Sarah L Sawyer, et al.
Annual Review of Genomics and Human Genetics|April 15, 2020
New Diagnostic Approaches for Undiagnosed Rare Genetic DiseasesTaila Hartley, Gabrielle Lemire, Kristin D Kernohan, et al.
Neurology. Genetics|April 12, 2016
Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblingsPatrick Ferreira, Stephanie M Luco, Sarah L Sawyer, et al.
European Journal of Medical Genetics|May 10, 2019
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1FEndre Pál, Judith Zima, Kinga Hadzsiev, et al.
Human Mutation|December 2, 2017
Evaluation of exome filtering techniques for the analysis of clinically relevant genesKristin D Kernohan, Taila Hartley, Najmeh Alirezaie, et al.
American Journal of Medical Genetics. Part A|July 17, 2009
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individualsMelissa T Carter, Stephanie A St Pierre, Elaine H Zackai, et al.
Journal of Human Genetics|February 24, 2017
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1Priya T Bhola, Taila Hartley, Eric Bareke, et al.
BMJ Open|October 10, 2022
Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluationRobin Z Hayeems, Francois Bernier, Kym M Boycott, et al.
American Journal of Medical Genetics. Part A|March 7, 2019
Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosisDanielle K Bourque, Mireille Cloutier, Kristin D Kernohan, et al.
Pageof 24