نتائج البحث - Stanislav Kmoch

تنقيح النتائج
  1. 1
    Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography

    Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography حسب Stanislav Kmoch

    منشور في 2000
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    Artigo
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  2. 2
    Lysosomal storage-independent Fabry disease variants with α-galactosidase A misprocessing-induced ER stress and the unfolded protein response

    Lysosomal storage-independent Fabry disease variants with α-galactosidase A misprocessing-induced ER stress and the unfolded protein response حسب Martina Živná, Malte Lenders, Stanislav Kmoch

    منشور في 2025
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    Revisão
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  3. 3
    Uromodulin Biology and Pathophysiology – An Update

    Uromodulin Biology and Pathophysiology – An Update حسب Petr Vyleťal, Anthony J. Bleyer, Stanislav Kmoch

    منشور في 2010
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  4. 4
    Adenylosuccinate lyase deficiency

    Adenylosuccinate lyase deficiency حسب Agnieszka Jurecka, Marie Zikánová, Stanislav Kmoch, Anna Tylki‐Szymańska

    منشور في 2014
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  5. 5
    Autosomal Dominant Tubulointerstitial Kidney Disease

    Autosomal Dominant Tubulointerstitial Kidney Disease حسب Anthony J. Bleyer, Kendrah Kidd, Martina Živná, Stanislav Kmoch

    منشور في 2017
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  6. 6
    Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

    Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients حسب Stanislav Kmoch, Hana Hartmannová, Blanka Stibůrková, Jakub Krijt, Marie Zikánová, Ivan Šebesta

    منشور في 2000
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    Artigo
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  7. 7
    Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency

    Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency حسب Veronika Barešová, Václava Škopová, Jakub Sikora, David Patterson, Jana Sovová, Marie Zikánová, Stanislav Kmoch

    منشور في 2011
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  8. 8
    Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection

    Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection حسب Victor Fages, Florentin Bourre, Romain Larrue, Andrea Wenzel, Jean‐Baptiste Gibier, Fabrice Bonte, Claire‐Marie Dhaenens, Kendrah Kidd, Stanislav Kmoch, Anthony J. Bleyer, François Glowacki, Olivier Grunewald

    منشور في 2024
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    Artigo
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  9. 9
    HIF and reactive oxygen species regulate oxidative phosphorylation in cancer

    HIF and reactive oxygen species regulate oxidative phosphorylation in cancer حسب Éric Hervouet, Alena Čížková, Jocelyne Demont, Alena Vojtı́šková, Petr Pecina, Nicole L.W. Franssen-van Hal, Jaap Keijer, Hélène Simonnet, Robert Ivánek, Stanislav Kmoch, Catherine Godinot, J Houštěk

    منشور في 2008
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    Artigo
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  10. 10
    Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

    Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease حسب L.B. Lopes, C.C. Abreu, Cintia Fernandes Souza, L.E.R. Guimaraes, Andréa Silva, Fábio Aguiar-Alves, Kendrah Kidd, Stanislav Kmoch, Anthony J. Bleyer, Jorge Reis Almeida

    منشور في 2018
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    Artigo
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  11. 11
    Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (<i>HGSNAT</i>) gene

    Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (<i>HGSNAT</i>) gene حسب Matthew Feldhammer, Stéphanie Durand, Lenka Mrázová, Renée-Myriam Boucher, Rachel Laframboise, Robert Steinfeld, J. E. Wraith, Helen Michelakakis, Otto P. van Diggelen, Martin Hřebı́ček, Stanislav Kmoch, Alexey V. Pshezhetsky

    منشور في 2009
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  12. 12
    Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

    Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report حسب Kai‐Uwe Eckardt, Seth L. Alper, Corinne Antignac, Anthony J. Bleyer, Dominique Chauveau, Karin Dahan, Constantinos Deltas, Andrew Hosking, Stanislav Kmoch, Luca Rampoldi, Michael S. Wiesener, Matthias T. F. Wolf, Olivier Devuyst

    منشور في 2015
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    Artigo
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  13. 13
    Elevated urinary CRELD2 is associated with endoplasmic reticulum stress–mediated kidney disease

    Elevated urinary CRELD2 is associated with endoplasmic reticulum stress–mediated kidney disease حسب Yeawon Kim, Sun-Ji Park, Scott R. Manson, Carlos A. Molina, Kendrah Kidd, Heather Thiessen‐Philbrook, Rebecca Perry, Helen Liapis, Stanislav Kmoch, Chirag R. Parikh, Anthony J. Bleyer, Ying Maggie Chen

    منشور في 2017
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  14. 14
    Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome

    Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome حسب Petr Vyleťal, Martina Kublová, Marie Hubálek Kalbáčová, Kateřina Hodaňová, Veronika Barešová, Blanka Stibůrková, Jakub Sikora, Helena Hůlková, J Živný, Jacek Majewski, Anne Simmonds, J. P. Fryns, Gopalakrishnan Venkat‐Raman, M. Elleder, Stanislav Kmoch

    منشور في 2006
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  15. 15
    Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

    Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation حسب Tomáš Honzík, Markéta Tesařová, Johannes A. Mayr, Hana Hansíková, Pavel Ješina, Olaf A. Bodamer, Johannes Koch, Martin Magner, Peter Freisinger, Martina Huemer, Olga Kostková, Rudy Van Coster, Stanislav Kmoch, J Houštěk, Wolfgang Sperl, J Zeman

    منشور في 2010
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  16. 16
    Ethylmalonic Aciduria Is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase

    Ethylmalonic Aciduria Is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase حسب Morten J. Corydon, N. Gregersen, W. Lehnert, Antònia Ribes, Piero Rinaldo, Stanislav Kmoch, E. Christensen, Thomas J. Kristensen, Brage Storstein Andresen, Peter Bross, Vibeke Winter, G Martı́nez, Søren Neve, Thomas G. Jensen, Lars Bolund, Steen Kølvraa

    منشور في 1996
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    Artigo
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  17. 17
    Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

    Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease حسب Christine Gast, Anthony M. Marinaki, Monica Arenas-Hernandez, Sara Campbell, Eleanor G. Seaby, Reuben J. Pengelly, Daniel P. Gale, Thomas M. Connor, David J. Bunyan, Kateřina Hodaňová, Martina Živná, Stanislav Kmoch, Sarah Ennis, Gopalakrishnan Venkat‐Raman

    منشور في 2018
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    Artigo
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  18. 18
    Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

    Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation حسب Eon Joo Park, Kariona A. Grabińska, Ziqiang Guan, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Veronika Barešová, Jana Sovová, Levente József, Nina Ondrušková, Hana Hansíková, Tomáš Honzík, J Zeman, Helena Hůlková, Rong Wen, Stanislav Kmoch, William C. Sessa

    منشور في 2014
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  19. 19
    Characterization of Monogenic Kidney Disease in Older Patients with CKD

    Characterization of Monogenic Kidney Disease in Older Patients with CKD حسب Elhussein A. Elhassan, Sarah Cormican, Shohdan M Osman, Sahin Sarihan, Omri Teltsh, F POYNTON, Matthew D. Griffin, Liam Casserly, Emma McCann, Anthony J. Bleyer, Stanislav Kmoch, Martina Živná, Katherine A. Benson, Gianpiero L. Cavalleri, Peter J. Conlon

    منشور في 2025
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  20. 20
    Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

    Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis حسب Lenka Nosková, Viktor Stránecký, Hana Hartmannová, Anna Přistoupilová, Veronika Barešová, Robert Ivánek, Helena Hůlková, Helena Jahnová, Julie van der Zee, John F. Staropoli, Katherine B. Sims, Jaana Tyynelä, Christine Van Broeckhoven, Peter C.G. Nijssen, Sara Mole, M. Elleder, Stanislav Kmoch

    منشور في 2011
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