Ngā hua rapu - 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. mā B Steinmann, Peter Brückner, Andrea Superti‐Furga

    I whakaputaina 1991
    Whiwhi kuputuhi katoa
    Artigo
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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. mā Andrea Superti‐Furga, E Gugler, R Gitzelmann, B Steinmann

    I whakaputaina 1988
    Whiwhi kuputuhi katoa
    Artigo
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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. mā Daniel H. Cohn, Peter H. Byers, B Steinmann, Richard Gelinas

    I whakaputaina 1986
    Whiwhi kuputuhi katoa
    Artigo
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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. mā MK Wirtz, R W Glanville, B Steinmann, V H Rao, DW Hollister

    I whakaputaina 1987
    Whiwhi kuputuhi katoa
    Artigo
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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. mā B Steinmann, V H Rao, A. Vogel, Peter Brückner, R Gitzelmann, Peter H. Byers

    I whakaputaina 1984
    Whiwhi kuputuhi katoa
    Artigo
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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. mā B Steinmann, Leena Tuderman, Leena Peltonen, George R. Martin, V.A. McKusick, Darwin J. Prockop

    I whakaputaina 1980
    Whiwhi kuputuhi katoa
    Artigo
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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. mā Dominique Weil, Michael P. Bernard, Nicholas J. Combates, Markus Wirtz, David W. Hollister, B Steinmann, Francesco Ramirez

    I whakaputaina 1988
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Dominique Weil, Marina D’Alessio, Francesco Ramirez, B Steinmann, Markus Wirtz, R W Glanville, David W. Hollister

    I whakaputaina 1989
    Whiwhi kuputuhi katoa
    Artigo
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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... mā Ming Bai, Simon H. S. Pearce, Olga Kifor, Sweety Trivedi, U. Stauffer, Rajesh V. Thakker, Edward M. Brown, B Steinmann

    I whakaputaina 1997
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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. mā Michael Raghunath, Bianca Höpfner, Daniel Aeschlimann, Urs Lüthi, Martin Meuli, Stefan Altermatt, Rita Gobet, Leena Bruckner‐Tuderman, B Steinmann

    I whakaputaina 1996
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Petros Tsipouras, R. Del Mastro, M. Sarfarazi, B Lee, Emilia Vitale, A. H. Child, Maurice Godfrey, Richard B. Devereux, D. Hewett, B Steinmann

    I whakaputaina 1992
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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. mā 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

    I whakaputaina 1994
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2006
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2001
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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