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

D Ross McLeod

Showing results (11-20 of 26) with videos related to

Pageof 3
Sort By:
Human Mutation|November 16, 2005
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndromeStefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, et al.
American Journal of Human Genetics|August 10, 2010
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problemsStephen R Williams, Micheala A Aldred, Vazken M Der Kaloustian, et al.
American Journal of Human Genetics|August 5, 2005
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplificationKym M Boycott, Shauna Flavelle, Alexandre Bureau, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North AmericaCatrina Loucks, Jillian S Parboosingh, Jessica X Chong, 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.
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.
American Journal of Medical Genetics. Part A|July 3, 2007
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndromeKym M Boycott, Jillian S Parboosingh, James N Scott, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
Intellectual disability associated with a homozygous missense mutation in THOC6Chandree L Beaulieu, Lijia Huang, A Micheil Innes, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
American Journal of Human Genetics|December 7, 2015
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8Kym M Boycott, Chandree L Beaulieu, Kristin D Kernohan, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Human Mutation|November 16, 2005
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndromeStefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, et al.
American Journal of Human Genetics|August 10, 2010
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problemsStephen R Williams, Micheala A Aldred, Vazken M Der Kaloustian, et al.
American Journal of Human Genetics|August 5, 2005
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplificationKym M Boycott, Shauna Flavelle, Alexandre Bureau, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North AmericaCatrina Loucks, Jillian S Parboosingh, Jessica X Chong, 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.
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.
American Journal of Medical Genetics. Part A|July 3, 2007
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndromeKym M Boycott, Jillian S Parboosingh, James N Scott, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
Intellectual disability associated with a homozygous missense mutation in THOC6Chandree L Beaulieu, Lijia Huang, A Micheil Innes, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
American Journal of Human Genetics|December 7, 2015
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8Kym M Boycott, Chandree L Beaulieu, Kristin D Kernohan, et al.
Pageof 3