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Kym M Boycott

Showing results (71-80 of 239) with videos related to

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Human Mutation|July 13, 2017
"Matching" consent to purpose: The example of the Matchmaker ExchangeStephanie O M Dyke, Bartha M Knoppers, Ada Hamosh, et al.
Neurobiology of Aging|October 16, 2014
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathologyDavid A Dyment, Amanda C Smith, Peter Humphreys, et al.
Journal of Internal Medicine|May 22, 2023
Precision medicine in rare diseases: What is next?Bianca Tesi, Catherine Boileau, Kym M Boycott, et al.
Pediatric Blood & Cancer|May 17, 2017
H3.1 K36M mutation in a congenital-onset soft tissue neoplasmKristin D Kernohan, David Grynspan, Raveena Ramphal, et al.
Developmental Medicine and Child Neurology|September 22, 2005
Autosomal recessive cerebellar hypoplasia in the Hutterite populationHannah C Glass, Kym M Boycott, Coleen Adams, et al.
Genetics|September 7, 2017
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic ResearchMichael F Wangler, Shinya Yamamoto, Hsiao-Tuan Chao, et al.
European Journal of Human Genetics : EJHG|October 27, 2016
'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseasesHanns Lochmüller, Yann Le Cam, Anneliene H Jonker, 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.
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.
Human Molecular Genetics|August 27, 2015
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disabilityKristin D Kernohan, Martine Tétreault, Urszula Liwak-Muir, et al.
Pageof 24

Showing results (71-80 of 239) with videos related to

Sort By:
Pageof 24
Human Mutation|July 13, 2017
"Matching" consent to purpose: The example of the Matchmaker ExchangeStephanie O M Dyke, Bartha M Knoppers, Ada Hamosh, et al.
Neurobiology of Aging|October 16, 2014
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathologyDavid A Dyment, Amanda C Smith, Peter Humphreys, et al.
Journal of Internal Medicine|May 22, 2023
Precision medicine in rare diseases: What is next?Bianca Tesi, Catherine Boileau, Kym M Boycott, et al.
Pediatric Blood & Cancer|May 17, 2017
H3.1 K36M mutation in a congenital-onset soft tissue neoplasmKristin D Kernohan, David Grynspan, Raveena Ramphal, et al.
Developmental Medicine and Child Neurology|September 22, 2005
Autosomal recessive cerebellar hypoplasia in the Hutterite populationHannah C Glass, Kym M Boycott, Coleen Adams, et al.
Genetics|September 7, 2017
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic ResearchMichael F Wangler, Shinya Yamamoto, Hsiao-Tuan Chao, et al.
European Journal of Human Genetics : EJHG|October 27, 2016
'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseasesHanns Lochmüller, Yann Le Cam, Anneliene H Jonker, 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.
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.
Human Molecular Genetics|August 27, 2015
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disabilityKristin D Kernohan, Martine Tétreault, Urszula Liwak-Muir, et al.
Pageof 24