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 (111-120 of 239) with videos related to

Pageof 24
Sort By:
American Journal of Human Genetics|January 8, 2013
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2Pierre Moffatt, Mouna Ben Amor, Francis H Glorieux, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Clinical genetics and the Hutterite population: a review of Mendelian disordersKym M Boycott, Jillian S Parboosingh, Bernie N Chodirker, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|October 8, 2019
Implementation of Epilepsy Multigene Panel Testing in Ontario, CanadaDavid A Dyment, Asuri N Prasad, Kym M Boycott, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndromeSonja A de Munnik, Sixto García-Miñaúr, Alexander Hoischen, et al.
Human Mutation|July 30, 2015
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomaliesCatrina M Loucks, Jillian S Parboosingh, Ranad Shaheen, et al.
Journal of Medical Genetics|April 8, 2014
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasiaAmanda C Smith, Alan J Mears, Ryan Bunker, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACEJulie Richer, Hussein Daoud, Pavel Geier, et al.
Human Mutation|June 18, 2011
Mutations in NOTCH2 in families with Hajdu-Cheney syndromeJacek Majewski, Jeremy A Schwartzentruber, Aurore Caqueret, et al.
Current Protocols in Human Genetics|October 19, 2017
Matchmaker ExchangeNara L M Sobreira, Harindra Arachchi, Orion J Buske, et al.
Human Molecular Genetics|April 13, 2018
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neuronsVeronika Boczonadi, Kathrin Meyer, Humberto Gonczarowska-Jorge, et al.
Pageof 24

Showing results (111-120 of 239) with videos related to

Sort By:
Pageof 24
American Journal of Human Genetics|January 8, 2013
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2Pierre Moffatt, Mouna Ben Amor, Francis H Glorieux, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Clinical genetics and the Hutterite population: a review of Mendelian disordersKym M Boycott, Jillian S Parboosingh, Bernie N Chodirker, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|October 8, 2019
Implementation of Epilepsy Multigene Panel Testing in Ontario, CanadaDavid A Dyment, Asuri N Prasad, Kym M Boycott, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndromeSonja A de Munnik, Sixto García-Miñaúr, Alexander Hoischen, et al.
Human Mutation|July 30, 2015
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomaliesCatrina M Loucks, Jillian S Parboosingh, Ranad Shaheen, et al.
Journal of Medical Genetics|April 8, 2014
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasiaAmanda C Smith, Alan J Mears, Ryan Bunker, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACEJulie Richer, Hussein Daoud, Pavel Geier, et al.
Human Mutation|June 18, 2011
Mutations in NOTCH2 in families with Hajdu-Cheney syndromeJacek Majewski, Jeremy A Schwartzentruber, Aurore Caqueret, et al.
Current Protocols in Human Genetics|October 19, 2017
Matchmaker ExchangeNara L M Sobreira, Harindra Arachchi, Orion J Buske, et al.
Human Molecular Genetics|April 13, 2018
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neuronsVeronika Boczonadi, Kathrin Meyer, Humberto Gonczarowska-Jorge, et al.
Pageof 24