Search Results - Uwe Kornak

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

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

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

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

    Published 2020
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  3. 3
    Metabolic cutis laxa syndromes

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

    Published 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 by Stefanie Weinert, Sabrina Jabs, Svea Hohensee, Wing Lee Chan, Uwe Kornak, Thomas J. Jentsch

    Published 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 by Tim Rolvien, Till Koehne, Uwe Kornak, Wolfgang Lehmann, Michael Amling, Thorsten Schinke, Ralf Oheim

    Published 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 by Satapathy, Amit Kumar, Pandey, Swati, Chaudhary, Madhumita Roy, Bagga, Arvind, Kabra, Madhulika, Uwe, Kornak, Gupta, Neerja

    Published 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 by Maïlys Guillard, Aikaterini Dimopoulou, Björn Fischer‐Zirnsak, Éva Morava, Dirk J. Lefeber, Uwe Kornak, Ron A. Wevers

    Published 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 by Erik Brauer, Tobias Lange, Daniela Keller, Sophie Görlitz, Simone Cho, Jacqueline Keye, Manfred Gossen, Ansgar Petersen, Uwe Kornak

    Published 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 by Uwe Kornak, Dagmar Kasper, Michael R. Bösl, Edelgard Kaiser, Michaela Schweizer, Ansgar Schulz, Wilhelm Friedrich, G. Delling, Thomas J. Jentsch

    Published 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) by Julian Stürznickel, Tim Rolvien, Alena Delsmann, Sebastian Butscheidt, Florian Barvencik, Stefan Mundlos, Thorsten Schinke, Uwe Kornak, Michael Amling, Ralf Oheim

    Published 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 by Uwe Kornak, Ansgar Schulz, W Friedrich, Siegfried Uhlhaas, B Kremens, Thomas Voït, Carola Hasan, U. Bode, Thomas J. Jentsch, Christian Kubisch

    Published 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 by Harald W.A. Ehlen, Milana Chinenkova, Markus Moser, Hans-Markus Munter, Yvonne Krause, Stefanie Groß, Bent Brachvogel, Manuela Wuelling, Uwe Kornak, Andrea Vortkamp

    Published 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 by Tim Rolvien, Julian Stürznickel, Felix N. Schmidt, Sebastian Butscheidt, Tobias Schmidt, Björn Busse, Stefan Mundlos, Thorsten Schinke, Uwe Kornak, Michael Amling, Ralf Oheim

    Published 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 by Andrea N. Albrecht, Uwe Kornak, Annett Böddrich, Kathrin Süring, Peter N. Robinson, Asita C. Stiege, Rudi Lurz, Sigmar Stricker, Erich E. Wanker, Stefan Mundlos

    Published 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 by 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

    Published 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 by 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

    Published 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 by 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

    Published 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 by 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

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

    Congenital disorders of glycosylation (CDG): Quo vadis? by 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

    Published 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 by 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

    Published 2020
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