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

C A Francomano

Showing results (91-100 of 101) with videos related to

Pageof 11
Sort By:
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 31, 2003
A study of linkage and association of body mass index in the Old Order AmishP Platte, G J Papanicolaou, J Johnston, et al.
Human Genetics|December 18, 1998
Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTsW M Eyaid, M V Clough, H Root, et al.
Human Molecular Genetics|May 1, 1994
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4pC A Francomano, R I Ortiz de Luna, T W Hefferon, et al.
American Journal of Human Genetics|October 31, 2000
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotypeG A Bellus, E B Spector, P W Speiser, 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.
Archives of Otolaryngology--Head & Neck Surgery|September 15, 2001
Auditory dysfunction in Stickler syndromeY M Szymko-Bennett, M A Mastroianni, L I Shotland, et al.
American Journal of Human Genetics|December 5, 1998
Mutation analysis of LMX1B gene in nail-patella syndrome patientsI McIntosh, S D Dreyer, M V Clough, 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.
American Journal of Human Genetics|January 1, 1997
Fine mapping of the nail-patella syndrome locus at 9q34I McIntosh, M V Clough, A A Schäffer, et al.
Nature Genetics|March 18, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesisY Gong, D Krakow, J Marcelino, et al.
Pageof 11

Showing results (91-100 of 101) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 31, 2003
A study of linkage and association of body mass index in the Old Order AmishP Platte, G J Papanicolaou, J Johnston, et al.
Human Genetics|December 18, 1998
Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTsW M Eyaid, M V Clough, H Root, et al.
Human Molecular Genetics|May 1, 1994
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4pC A Francomano, R I Ortiz de Luna, T W Hefferon, et al.
American Journal of Human Genetics|October 31, 2000
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotypeG A Bellus, E B Spector, P W Speiser, 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.
Archives of Otolaryngology--Head & Neck Surgery|September 15, 2001
Auditory dysfunction in Stickler syndromeY M Szymko-Bennett, M A Mastroianni, L I Shotland, et al.
American Journal of Human Genetics|December 5, 1998
Mutation analysis of LMX1B gene in nail-patella syndrome patientsI McIntosh, S D Dreyer, M V Clough, 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.
American Journal of Human Genetics|January 1, 1997
Fine mapping of the nail-patella syndrome locus at 9q34I McIntosh, M V Clough, A A Schäffer, et al.
Nature Genetics|March 18, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesisY Gong, D Krakow, J Marcelino, et al.
Pageof 11