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

M Vikkula

Showing results (51-60 of 57) with videos related to

Pageof 6
Sort By:
You have reached the last page of results.This site can display upto 57 results.
Journal of Medical Genetics|February 4, 2005
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effectP Brouillard, M Ghassibé, A Penington, et al.
Molecular Syndromology|June 27, 2013
Genotypes and phenotypes of 162 families with a glomulin mutationP Brouillard, L M Boon, N Revencu, et al.
American Journal of Human Genetics|July 1, 1996
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13Y Gong, M Vikkula, L Boon, et al.
Molecular Syndromology|May 9, 2013
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 MutationsM Alders, A Mendola, L Adès, et al.
American Journal of Human Genetics|September 16, 1999
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypesS Annunen, J Körkkö, M Czarny, et al.
Molecular Syndromology|November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS SignL Desmyter, M Ghassibe, N Revencu, et al.
Cell|November 24, 2001
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye developmentY Gong, R B Slee, N Fukai, et al.
Pageof 6

Showing results (51-60 of 57) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 57 results.
Journal of Medical Genetics|February 4, 2005
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effectP Brouillard, M Ghassibé, A Penington, et al.
Molecular Syndromology|June 27, 2013
Genotypes and phenotypes of 162 families with a glomulin mutationP Brouillard, L M Boon, N Revencu, et al.
American Journal of Human Genetics|July 1, 1996
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13Y Gong, M Vikkula, L Boon, et al.
Molecular Syndromology|May 9, 2013
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 MutationsM Alders, A Mendola, L Adès, et al.
American Journal of Human Genetics|September 16, 1999
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypesS Annunen, J Körkkö, M Czarny, et al.
Molecular Syndromology|November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS SignL Desmyter, M Ghassibe, N Revencu, et al.
Cell|November 24, 2001
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye developmentY Gong, R B Slee, N Fukai, et al.
Pageof 6