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S Mundlos

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Pediatric Radiology|January 1, 1994
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasiaJ Spranger, H Menger, S Mundlos, et al.
Annals of the New York Academy of Sciences|June 8, 1996
Cleidocranial dysplasia in miceS Mundlos, L F Huang, P Selby, et al.
Journal of Immunological Methods|March 9, 1990
A neonatally tolerant mouse model to assess pathogenicity of human autoantibodiesS Mundlos, I R Mackay, I H Frazer, et al.
Nature|March 28, 1991
Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporterE Turk, B Zabel, S Mundlos, et al.
The Journal of Clinical Investigation|November 1, 1991
Molecular genetics of intestinal glucose transportE M Wright, E Turk, B Zabel, et al.
American Journal of Medical Genetics. Part A|February 11, 2005
Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from OmanAnna Rajab, K Hoffmann, A Ganesh, et al.
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.
European Journal of Human Genetics : EJHG|March 28, 2008
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor geneS Türkmen, K Hoffmann, Osman Demirhan, et al.
Genomics|October 27, 1998
Characterization of a human homologue of the Saccharomyces cerevisiae transcription factor spt3 (SUPT3H)J Yu, J M Madison, S Mundlos, et al.
Clinical Genetics|March 27, 2009
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3B Tuysuz, S Mizumoto, K Sugahara, et al.
Pageof 10

Showing results (31-40 of 94) with videos related to

Sort By:
Pageof 10
Pediatric Radiology|January 1, 1994
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasiaJ Spranger, H Menger, S Mundlos, et al.
Annals of the New York Academy of Sciences|June 8, 1996
Cleidocranial dysplasia in miceS Mundlos, L F Huang, P Selby, et al.
Journal of Immunological Methods|March 9, 1990
A neonatally tolerant mouse model to assess pathogenicity of human autoantibodiesS Mundlos, I R Mackay, I H Frazer, et al.
Nature|March 28, 1991
Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporterE Turk, B Zabel, S Mundlos, et al.
The Journal of Clinical Investigation|November 1, 1991
Molecular genetics of intestinal glucose transportE M Wright, E Turk, B Zabel, et al.
American Journal of Medical Genetics. Part A|February 11, 2005
Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from OmanAnna Rajab, K Hoffmann, A Ganesh, et al.
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.
European Journal of Human Genetics : EJHG|March 28, 2008
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor geneS Türkmen, K Hoffmann, Osman Demirhan, et al.
Genomics|October 27, 1998
Characterization of a human homologue of the Saccharomyces cerevisiae transcription factor spt3 (SUPT3H)J Yu, J M Madison, S Mundlos, et al.
Clinical Genetics|March 27, 2009
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3B Tuysuz, S Mizumoto, K Sugahara, et al.
Pageof 10