Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Kym M Boycott

Showing results (31-40 of 239) with videos related to

Pageof 24
Sort By:
American Journal of Medical Genetics. Part A|May 27, 2010
A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite populationKym M Boycott, Chandree Beaulieu, Erik G Puffenberger, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C geneAmanda Smith, Dennis E Bulman, Claire Goldsmith, et al.
American Journal of Medical Genetics. Part A|January 13, 2016
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutationResham Ejaz, Wen Qin, Lijia Huang, et al.
The European Journal of Health Economics : HEPAC : Health Economics in Prevention and Care|November 12, 2025
Is next generation sequencing for the diagnosis of rare diseases worth its cost? A user-based approach to valuationKaren V MacDonald, Sebastian Heidenreich, Nicolas Krucien, et al.
Clinical Genetics|August 9, 2019
p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsyKristin D Kernohan, Arran McBride, Taila Hartley, et al.
American Journal of Medical Genetics. Part A|August 18, 2021
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal statureHugh J McMillan, Jorge Davila, Matt Osmond, et al.
Muscle & Nerve|February 12, 2009
Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patientHugh J McMillan, Melissa T Carter, Pierre J Jacob, et al.
Journal of Medical Genetics|October 1, 2013
Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?Ma'n H Zawati, David Parry, Adrian Thorogood, et al.
Clinical Genetics|February 22, 2019
Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literatureMelissa T Carter, Sunita Venkateswaran, Gali Shapira-Zaltsberg, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 24, 2018
Nablus syndrome: Easy to diagnose yet difficult to solveJudith Allanson, Amanda Smith, Francesca Forzano, et al.
Pageof 24

Showing results (31-40 of 239) with videos related to

Sort By:
Pageof 24
American Journal of Medical Genetics. Part A|May 27, 2010
A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite populationKym M Boycott, Chandree Beaulieu, Erik G Puffenberger, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C geneAmanda Smith, Dennis E Bulman, Claire Goldsmith, et al.
American Journal of Medical Genetics. Part A|January 13, 2016
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutationResham Ejaz, Wen Qin, Lijia Huang, et al.
The European Journal of Health Economics : HEPAC : Health Economics in Prevention and Care|November 12, 2025
Is next generation sequencing for the diagnosis of rare diseases worth its cost? A user-based approach to valuationKaren V MacDonald, Sebastian Heidenreich, Nicolas Krucien, et al.
Clinical Genetics|August 9, 2019
p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsyKristin D Kernohan, Arran McBride, Taila Hartley, et al.
American Journal of Medical Genetics. Part A|August 18, 2021
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal statureHugh J McMillan, Jorge Davila, Matt Osmond, et al.
Muscle & Nerve|February 12, 2009
Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patientHugh J McMillan, Melissa T Carter, Pierre J Jacob, et al.
Journal of Medical Genetics|October 1, 2013
Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?Ma'n H Zawati, David Parry, Adrian Thorogood, et al.
Clinical Genetics|February 22, 2019
Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literatureMelissa T Carter, Sunita Venkateswaran, Gali Shapira-Zaltsberg, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 24, 2018
Nablus syndrome: Easy to diagnose yet difficult to solveJudith Allanson, Amanda Smith, Francesca Forzano, et al.
Pageof 24