Torthaí cuardaigh - B Steinmann

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  1. 1
    Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase.

    Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase. de réir B Steinmann, Peter Brückner, Andrea Superti‐Furga

    Foilsithe / Cruthaithe 1991
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  2. 2
    Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

    Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. de réir Andrea Superti‐Furga, E Gugler, R Gitzelmann, B Steinmann

    Foilsithe / Cruthaithe 1988
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  3. 3
    Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.

    Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. de réir Daniel H. Cohn, Peter H. Byers, B Steinmann, Richard Gelinas

    Foilsithe / Cruthaithe 1986
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  4. 4
    Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.

    Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain. de réir MK Wirtz, R W Glanville, B Steinmann, V H Rao, DW Hollister

    Foilsithe / Cruthaithe 1987
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  5. 5
    Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.

    Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. de réir B Steinmann, V H Rao, A. Vogel, Peter Brückner, R Gitzelmann, Peter H. Byers

    Foilsithe / Cruthaithe 1984
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  6. 6
    Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

    Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. de réir B Steinmann, Leena Tuderman, Leena Peltonen, George R. Martin, V.A. McKusick, Darwin J. Prockop

    Foilsithe / Cruthaithe 1980
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  7. 7
    Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

    Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant. de réir Dominique Weil, Michael P. Bernard, Nicholas J. Combates, Markus Wirtz, David W. Hollister, B Steinmann, Francesco Ramirez

    Foilsithe / Cruthaithe 1988
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  8. 8
    Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII

    Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII de réir Dominique Weil, Marina D’Alessio, Francesco Ramirez, B Steinmann, Markus Wirtz, R W Glanville, David W. Hollister

    Foilsithe / Cruthaithe 1989
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  9. 9
    In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.

    In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium hom... de réir Ming Bai, Simon H. S. Pearce, Olga Kifor, Sweety Trivedi, U. Stauffer, Rajesh V. Thakker, Edward M. Brown, B Steinmann

    Foilsithe / Cruthaithe 1997
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  10. 10
    Cross-linking of the dermo-epidermal junction of skin regenerating from keratinocyte autografts. Anchoring fibrils are a target for tissue transglutaminase.

    Cross-linking of the dermo-epidermal junction of skin regenerating from keratinocyte autografts. Anchoring fibrils are a target for tissue transglutaminase. de réir Michael Raghunath, Bianca Höpfner, Daniel Aeschlimann, Urs Lüthi, Martin Meuli, Stefan Altermatt, Rita Gobet, Leena Bruckner‐Tuderman, B Steinmann

    Foilsithe / Cruthaithe 1996
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  11. 11
    Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5

    Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5 de réir Petros Tsipouras, R. Del Mastro, M. Sarfarazi, B Lee, Emilia Vitale, A. H. Child, Maurice Godfrey, Richard B. Devereux, D. Hewett, B Steinmann

    Foilsithe / Cruthaithe 1992
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  12. 12
    New insights into the performance of human whole-exome capture platforms

    New insights into the performance of human whole-exome capture platforms de réir Janine Meienberg, K. Žerjavic, Irene Keller, Michał Okoniewski, Andrea Patrignani, Katja Ludin, Zhenyu Xu, B Steinmann, Thierry Carrel, Benno Röthlisberger, Ralph Schlapbach, Rémy Bruggmann, Gábor Mátyás

    Foilsithe / Cruthaithe 2015
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  13. 13
    Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.

    Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. de réir Martin R. Pollak, Yah-Huei Chou, Stephen J. Marx, B Steinmann, David E.C. Cole, Maria Luisa Brandi, Socrates E. Papapoulos, Fred H. Menko, Geoffrey N. Hendy, Edward M. Brown

    Foilsithe / Cruthaithe 1994
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  14. 14
    Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy

    Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy de réir Georg F. Hoffmann, Bernhard Schmitt, Marisa Windfuhr, Nicola Wagner, H. Strehl, Soyhan Bağcı, Axel R. Franz, Philippa B. Mills, Peter T. Clayton, Matthias R. Baumgartner, B Steinmann, Thomas Bast, Nicole I. Wolf, Johannes Zschocke

    Foilsithe / Cruthaithe 2006
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  15. 15
    LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

    LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development de réir Yaoqin Gong, Roger B. Slee, N Fukai, Georges Rawadi, Sergio Román-Román, Anthony M. Reginato, Haoyu Wang, Tim Cundy, F. H. Glorieux, D. Lev, Margaret Zacharin, Konrad Oexle, J. R. Marcelino, W. Suwairi, Shauna Heeger, G. Sabatakos, Suneel Apte, William N. Adkins, Jeremy Allgrove, Mine Arslan‐Kirchner, Jennifer Batch, Peter Beighton, Graeme Black, Richard G. Boles, Laurence M. Boon, C Borrone, HG Brunner, Georges F. Carle, Bruno Dallapiccola, Anne De Paepe, B. Floege, M. L. Halfhide, B. Hall, Raoul C. M. Hennekam, Takuo Hirose, Anneke Jans, Harald Jüppner, Chong Ae Kim, Kim M. Keppler‐Noreuil, A. Kohlschuetter, Didier Lacombe, Max Norman Tandrup Lambert, Emmanuelle Lemyre, Tom G.W. Letteboer, L. Peltonen, Raj Ramesar, Marta Romanengo, Hannu Somer, Elisabeth Steichen‐Gersdorf, B Steinmann, Benjamin D. Sullivan, Andrea Superti‐Furga, Walter Swoboda, M. J. van den Boogaard, Wim Van Hul, Miikka Vikkula, Marcela Votruba, B. Zabel, Teresa García, Roland Baron, Bjørn R. Olsen, Matthew L. Warman

    Foilsithe / Cruthaithe 2001
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