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

L Tranebjaerg

Showing results (61-70 of 107) with videos related to

Pageof 11
Sort By:
Journal of Medical Genetics|May 2, 2006
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 geneH Eiberg, L Hansen, B Kjer, et al.
Human Molecular Genetics|January 1, 1997
Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophyM Schwartz, N Sørensen, F J Hansen, et al.
Prenatal Diagnosis|February 1, 1994
Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective terminationF S Jørgensen, J Bang, L Tranebjaerg, et al.
Clinical Genetics|July 3, 1998
Apolipoprotein E alleles in mothers of trisomy 18 conceptusesC Hansen, M Bugge, C A Brandt, et al.
American Journal of Human Genetics|January 23, 1999
Spectrum of mutations in alpha-mannosidosisT Berg, H M Riise, G M Hansen, et al.
Human Genetics|February 1, 1994
394delTT: a Nordic cystic fibrosis mutationM Schwartz, M Anvret, M Claustres, et al.
Clinical and Experimental Dermatology|September 18, 2010
A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndromeU Koppelhus, L Tranebjaerg, G Esberg, et al.
Tissue Antigens|April 26, 2002
HLA profile of three ethnic groups living in the North-Western region of RussiaI Evseeva, A Spurkland, E Thorsby, et al.
American Journal of Medical Genetics|May 1, 1988
Linkage analysis suggests at least two loci for X-linked non-specific mental retardationB Arveiler, Y Alembik, A Hanauer, et al.
Journal of Medical Genetics|April 1, 1995
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22L Tranebjaerg, C Schwartz, H Eriksen, et al.
Pageof 11

Showing results (61-70 of 107) with videos related to

Sort By:
Pageof 11
Journal of Medical Genetics|May 2, 2006
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 geneH Eiberg, L Hansen, B Kjer, et al.
Human Molecular Genetics|January 1, 1997
Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophyM Schwartz, N Sørensen, F J Hansen, et al.
Prenatal Diagnosis|February 1, 1994
Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective terminationF S Jørgensen, J Bang, L Tranebjaerg, et al.
Clinical Genetics|July 3, 1998
Apolipoprotein E alleles in mothers of trisomy 18 conceptusesC Hansen, M Bugge, C A Brandt, et al.
American Journal of Human Genetics|January 23, 1999
Spectrum of mutations in alpha-mannosidosisT Berg, H M Riise, G M Hansen, et al.
Human Genetics|February 1, 1994
394delTT: a Nordic cystic fibrosis mutationM Schwartz, M Anvret, M Claustres, et al.
Clinical and Experimental Dermatology|September 18, 2010
A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndromeU Koppelhus, L Tranebjaerg, G Esberg, et al.
Tissue Antigens|April 26, 2002
HLA profile of three ethnic groups living in the North-Western region of RussiaI Evseeva, A Spurkland, E Thorsby, et al.
American Journal of Medical Genetics|May 1, 1988
Linkage analysis suggests at least two loci for X-linked non-specific mental retardationB Arveiler, Y Alembik, A Hanauer, et al.
Journal of Medical Genetics|April 1, 1995
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22L Tranebjaerg, C Schwartz, H Eriksen, et al.
Pageof 11