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

W R Wilcox

Showing results (41-50 of 51) with videos related to

Pageof 6
Sort By:
Clinical Genetics|July 9, 2013
Phenotype-genotype correlations in patients with Marinesco-Sjögren syndromeF Ezgu, P Krejci, S Li, et al.
Journal of Inherited Metabolic Disease|March 10, 2007
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry RegistryC M Eng, J Fletcher, W R Wilcox, et al.
American Journal of Medical Genetics|June 28, 2001
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3D N Schweitzer, J M Graham, R S Lachman, et al.
Nature Genetics|July 3, 1999
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndromeN Braverman, P Lin, F F Moebius, et al.
American Journal of Medical Genetics|July 16, 1999
Small deletions in the type II collagen triple helix produce kniest dysplasiaD J Wilkin, A S Artz, S South, et al.
Nature Genetics|March 1, 1995
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3P L Tavormina, R Shiang, L M Thompson, et al.
Leukemia|December 18, 2010
The novel JAK inhibitor AZD1480 blocks STAT3 and FGFR3 signaling, resulting in suppression of human myeloma cell growth and survivalA Scuto, P Krejci, L Popplewell, et al.
Molecular Genetics and Metabolism|July 17, 2017
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in CaliforniaN M Gallant, K Leydiker, Y Wilnai, et al.
American Journal of Medical Genetics|June 22, 1999
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3G A Bellus, M J Bamshad, K A Przylepa, et al.
American Journal of Human Genetics|March 3, 1999
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 geneP L Tavormina, G A Bellus, M K Webster, et al.
Pageof 6

Showing results (41-50 of 51) with videos related to

Sort By:
Pageof 6
Clinical Genetics|July 9, 2013
Phenotype-genotype correlations in patients with Marinesco-Sjögren syndromeF Ezgu, P Krejci, S Li, et al.
Journal of Inherited Metabolic Disease|March 10, 2007
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry RegistryC M Eng, J Fletcher, W R Wilcox, et al.
American Journal of Medical Genetics|June 28, 2001
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3D N Schweitzer, J M Graham, R S Lachman, et al.
Nature Genetics|July 3, 1999
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndromeN Braverman, P Lin, F F Moebius, et al.
American Journal of Medical Genetics|July 16, 1999
Small deletions in the type II collagen triple helix produce kniest dysplasiaD J Wilkin, A S Artz, S South, et al.
Nature Genetics|March 1, 1995
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3P L Tavormina, R Shiang, L M Thompson, et al.
Leukemia|December 18, 2010
The novel JAK inhibitor AZD1480 blocks STAT3 and FGFR3 signaling, resulting in suppression of human myeloma cell growth and survivalA Scuto, P Krejci, L Popplewell, et al.
Molecular Genetics and Metabolism|July 17, 2017
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in CaliforniaN M Gallant, K Leydiker, Y Wilnai, et al.
American Journal of Medical Genetics|June 22, 1999
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3G A Bellus, M J Bamshad, K A Przylepa, et al.
American Journal of Human Genetics|March 3, 1999
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 geneP L Tavormina, G A Bellus, M K Webster, et al.
Pageof 6