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B Zabel

Showing results (51-60 of 120) with videos related to

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Development (Cambridge, England)|December 1, 1993
Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissuesS Mundlos, J Pelletier, A Darveau, et al.
Journal of Medical Genetics|May 1, 1995
Phenotypic variability in patients with generalised resistance to thyroid hormoneJ Pohlenz, S Wirth, A Winterpacht, et al.
American Journal of Medical Genetics. Part A|October 14, 2005
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 geneK Szczaluba, K Hilbert, E Obersztyn, et al.
Human Mutation|January 1, 1996
New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormoneJ Pohlenz, W Schönberger, H Wemme, et al.
Human Molecular Genetics|October 1, 1994
Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasiaA Winterpacht, U Schwarze, S Mundlos, et al.
Journal of Orthopaedic Science : Official Journal of the Japanese Orthopaedic Association|March 2, 2011
Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: A case report of a novel COL10A1 mutationJulia V Woelfle, R E Brenner, B Zabel, et al.
Human Mutation|January 1, 1994
Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutationA Winterpacht, M Hilbert, U Schwarze, et al.
Journal of Pediatric Gastroenterology and Nutrition|February 1, 1992
Detection of hepatitis B virus DNA in the liver of children with chronic hepatitis B by in situ hybridization and its relation to other viral markersS Wirth, A Hueter, I Blaha, et al.
Prenatal Diagnosis|October 1, 1996
Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalitiesJ Müller-Navia, A Nebel, D Oehler, et al.
American Journal of Medical Genetics|May 3, 1996
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaB Zabel, K Hilbert, H Stöss, et al.
Pageof 12

Showing results (51-60 of 120) with videos related to

Sort By:
Pageof 12
Development (Cambridge, England)|December 1, 1993
Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissuesS Mundlos, J Pelletier, A Darveau, et al.
Journal of Medical Genetics|May 1, 1995
Phenotypic variability in patients with generalised resistance to thyroid hormoneJ Pohlenz, S Wirth, A Winterpacht, et al.
American Journal of Medical Genetics. Part A|October 14, 2005
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 geneK Szczaluba, K Hilbert, E Obersztyn, et al.
Human Mutation|January 1, 1996
New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormoneJ Pohlenz, W Schönberger, H Wemme, et al.
Human Molecular Genetics|October 1, 1994
Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasiaA Winterpacht, U Schwarze, S Mundlos, et al.
Journal of Orthopaedic Science : Official Journal of the Japanese Orthopaedic Association|March 2, 2011
Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: A case report of a novel COL10A1 mutationJulia V Woelfle, R E Brenner, B Zabel, et al.
Human Mutation|January 1, 1994
Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutationA Winterpacht, M Hilbert, U Schwarze, et al.
Journal of Pediatric Gastroenterology and Nutrition|February 1, 1992
Detection of hepatitis B virus DNA in the liver of children with chronic hepatitis B by in situ hybridization and its relation to other viral markersS Wirth, A Hueter, I Blaha, et al.
Prenatal Diagnosis|October 1, 1996
Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalitiesJ Müller-Navia, A Nebel, D Oehler, et al.
American Journal of Medical Genetics|May 3, 1996
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaB Zabel, K Hilbert, H Stöss, et al.
Pageof 12