检索结果 - Uwe Kornak

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  1. 1
    Genetic Disorders of the Skeleton: A Developmental Approach

    Genetic Disorders of the Skeleton: A Developmental Approach 由 Uwe Kornak, Stefan Mundlos

    出版 2003
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  2. 2
    Premature aging disorders: A clinical and genetic compendium

    Premature aging disorders: A clinical and genetic compendium 由 Franziska Schnabel, Uwe Kornak, Bernd Wollnik

    出版 2020
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  3. 3
    Metabolic cutis laxa syndromes

    Metabolic cutis laxa syndromes 由 Miski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, Uwe Kornak, Ron A. Wevers, Éva Morava

    出版 2011
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  4. 4
    Transport activity and presence of ClC‐7/Ostm1 complex account for different cellular functions

    Transport activity and presence of ClC‐7/Ostm1 complex account for different cellular functions 由 Stefanie Weinert, Sabrina Jabs, Svea Hohensee, Wing Lee Chan, Uwe Kornak, Thomas J. Jentsch

    出版 2014
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  5. 5
    A Novel <i>ANO5</i> Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis

    A Novel <i>ANO5</i> Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis 由 Tim Rolvien, Till Koehne, Uwe Kornak, Wolfgang Lehmann, Michael Amling, Thorsten Schinke, Ralf Oheim

    出版 2016
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  6. 6
    Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency

    Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency 由 Satapathy, Amit Kumar, Pandey, Swati, Chaudhary, Madhumita Roy, Bagga, Arvind, Kabra, Madhulika, Uwe, Kornak, Gupta, Neerja

    出版 2019
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  7. 7
    Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa

    Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa 由 Maïlys Guillard, Aikaterini Dimopoulou, Björn Fischer‐Zirnsak, Éva Morava, Dirk J. Lefeber, Uwe Kornak, Ron A. Wevers

    出版 2009
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  8. 8
    Dissecting the influence of cellular senescence on cell mechanics and extracellular matrix formation in vitro

    Dissecting the influence of cellular senescence on cell mechanics and extracellular matrix formation in vitro 由 Erik Brauer, Tobias Lange, Daniela Keller, Sophie Görlitz, Simone Cho, Jacqueline Keye, Manfred Gossen, Ansgar Petersen, Uwe Kornak

    出版 2022
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  9. 9
    Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man

    Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man 由 Uwe Kornak, Dagmar Kasper, Michael R. Bösl, Edelgard Kaiser, Michaela Schweizer, Ansgar Schulz, Wilhelm Friedrich, G. Delling, Thomas J. Jentsch

    出版 2001
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  10. 10
    Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP)

    Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP) 由 Julian Stürznickel, Tim Rolvien, Alena Delsmann, Sebastian Butscheidt, Florian Barvencik, Stefan Mundlos, Thorsten Schinke, Uwe Kornak, Michael Amling, Ralf Oheim

    出版 2020
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  11. 11
    Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

    Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis 由 Uwe Kornak, Ansgar Schulz, W Friedrich, Siegfried Uhlhaas, B Kremens, Thomas Voït, Carola Hasan, U. Bode, Thomas J. Jentsch, Christian Kubisch

    出版 2000
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  12. 12
    Inactivation of anoctamin-6/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues

    Inactivation of anoctamin-6/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues 由 Harald W.A. Ehlen, Milana Chinenkova, Markus Moser, Hans-Markus Munter, Yvonne Krause, Stefanie Groß, Bent Brachvogel, Manuela Wuelling, Uwe Kornak, Andrea Vortkamp

    出版 2012
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  13. 13
    Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis

    Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis 由 Tim Rolvien, Julian Stürznickel, Felix N. Schmidt, Sebastian Butscheidt, Tobias Schmidt, Björn Busse, Stefan Mundlos, Thorsten Schinke, Uwe Kornak, Michael Amling, Ralf Oheim

    出版 2018
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  14. 14
    A molecular pathogenesis for transcription factor associated poly-alanine tract expansions

    A molecular pathogenesis for transcription factor associated poly-alanine tract expansions 由 Andrea N. Albrecht, Uwe Kornak, Annett Böddrich, Kathrin Süring, Peter N. Robinson, Asita C. Stiege, Rudi Lurz, Sigmar Stricker, Erich E. Wanker, Stefan Mundlos

    出版 2004
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  15. 15
    A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis

    A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis 由 Katherine Borthwick, Nurgün Kandemir, Rezan Topaloĝlu, Uwe Kornak, A Bakkaloglu, N Yordam, Seza Özen, H. Naci Mocan, G.N. Shah, William S. Sly, Fiona E. Karet

    出版 2003
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  16. 16
    Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1

    Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1 由 Björn Fischer‐Zirnsak, Bert Callewaert, Phillipe Schröter, Paul Coucke, Claire Schlack, Claus‐Eric Ott, Manrico Morroni, Wolfgang Homann, Stefan Mundlos, Éva Morava, Anna Ficcadenti, Uwe Kornak

    出版 2014
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  17. 17
    Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

    Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration 由 Dagmar Kasper, Rosa Planells‐Cases, Jens C. Fuhrmann, Olaf Scheel, Oliver Zeitz, Klaus Rüether, Anja Schmitt, Mallorie Poët, Robert Steinfeld, Michaela Schweizer, Uwe Kornak, Thomas J. Jentsch

    出版 2005
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  18. 18
    Cannabinoid receptor type 2 gene is associated with human osteoporosis

    Cannabinoid receptor type 2 gene is associated with human osteoporosis 由 Meliha Karsak, Martine Cohen‐Solal, Jan Freudenberg, Agnès Ostertag, C. Morieux, Uwe Kornak, Julia Essig, Edda Erxlebe, Itai Bab, Christian Kubisch, Marie‐Christine de Vernejoul, Andreas Zimmer

    出版 2005
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  19. 19
    Congenital disorders of glycosylation (CDG): Quo vadis?

    Congenital disorders of glycosylation (CDG): Quo vadis? 由 Romain Péanne, Pascale de Lonlay, François Foulquier, Uwe Kornak, Dirk J. Lefeber, Éva Morava, Belén Pérez, Nathalie Seta, Christian Thiel, Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken

    出版 2017
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  20. 20
    CRISPR-Cas9-Edited Tacrolimus-Resistant Antiviral T Cells for Advanced Adoptive Immunotherapy in Transplant Recipients

    CRISPR-Cas9-Edited Tacrolimus-Resistant Antiviral T Cells for Advanced Adoptive Immunotherapy in Transplant Recipients 由 Leila Amini, Dimitrios L. Wagner, Uta Rössler, Ghazaleh Zarrinrad, Livia Felicitas Wagner, Tino Vollmer, Désirée J. Wendering, Uwe Kornak, Hans‐Dieter Volk, Petra Reinke, Michael Schmueck‐Henneresse

    出版 2020
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