Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Hartmannová, Hana"'
Autor:
Oláhová M; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Peter B; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Szilagyi Z; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Diaz-Maldonado H; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Singh M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Sommerville EW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Blakely EL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Collier JJ; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Hoberg E; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, 120 00, Czech Republic., Hartmannová H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, 120 00, Czech Republic., Bleyer AJ; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, 120 00, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, USA., McBride KL; Center for Cardiovascular and Pulmonary Research, Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, USA., Bowden SA; Division of Endocrinology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, USA., Korandová Z; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, 120 00, Czech Republic.; Department of Bioenergetics, Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic., Pecinová A; Department of Bioenergetics, Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic., Ropers HH; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany., Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Tarnopolsky MA; Department of Pediatric and Medicines, Division of Neuromuscular and Neurometabolic Diseases, McMaster University Children's Hospital, Hamilton, Canada., Brady LI; Department of Pediatric and Medicines, Division of Neuromuscular and Neurometabolic Diseases, McMaster University Children's Hospital, Hamilton, Canada., Weaver KN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Prada CE; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Department of Pediatrics, Cardiovascular Foundation of Colombia, Floridablanca, Colombia., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wojcik MH; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Syeda SB; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA., Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Estrella EA; Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Bruels CC; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA., Kunkel LM; Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Kang PB; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.; Department of Molecular Genetics & Microbiology, and Department of Neurology, University of Florida College of Medicine, Gainesville, FL, USA.; Genetics Institute and Myology Institute, University of Florida, Gainesville, FL, USA., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Mráček T; Department of Bioenergetics, Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, 120 00, Czech Republic., Gorman GS; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Falkenberg M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Gustafsson CM; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden. claes.gustafsson@medkem.gu.se., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. robert.taylor@ncl.ac.uk.
Publikováno v:
Nature communications [Nat Commun] 2021 Feb 18; Vol. 12 (1), pp. 1135. Date of Electronic Publication: 2021 Feb 18.
Autor:
Bolar NA; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp 2650, Belgium., Golzio C; Center for Human Disease Modeling and Departments of Cell Biology and Psychiatry, Duke University, Durham, NC 27710, USA., Živná M; Institute for Inherited Metabolic Disorders, Prague, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic., Hayot G; Center for Human Disease Modeling and Departments of Cell Biology and Psychiatry, Duke University, Durham, NC 27710, USA., Van Hemelrijk C; Department of Pediatric Nephrology, University Hospital of Ghent, Ghent 9000, Belgium., Schepers D; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp 2650, Belgium., Vandeweyer G; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp 2650, Belgium., Hoischen A; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Huyghe JR; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp 2650, Belgium., Raes A; Department of Pediatric Nephrology, University Hospital of Ghent, Ghent 9000, Belgium., Matthys E; Department of Nephrology, Sint-Jan Hospital, Brugge 8000, Belgium., Sys E; Department of Nephrology, Sint-Lucas Hospital, Brugge 8310, Belgium., Azou M; Department of Nephrology, Sint-Lucas Hospital, Brugge 8310, Belgium., Gubler MC; INSERM, U983, Paris Cedex 15, France., Praet M; Department of Pathology, University Hospital of Ghent, Ghent 9000, Belgium., Van Camp G; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp 2650, Belgium., McFadden K; Center for Human Disease Modeling and Departments of Cell Biology and Psychiatry, Duke University, Durham, NC 27710, USA., Pediaditakis I; Center for Human Disease Modeling and Departments of Cell Biology and Psychiatry, Duke University, Durham, NC 27710, USA., Přistoupilová A; Institute for Inherited Metabolic Disorders, Prague, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic., Hodaňová K; Institute for Inherited Metabolic Disorders, Prague, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic., Vyleťal P; Institute for Inherited Metabolic Disorders, Prague, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic., Hartmannová H; Institute for Inherited Metabolic Disorders, Prague, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic., Stránecký V; Institute for Inherited Metabolic Disorders, Prague, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic., Hůlková H; Institute for Inherited Metabolic Disorders, Prague, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic., Barešová V; Institute for Inherited Metabolic Disorders, Prague, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic., Jedličková I; Institute for Inherited Metabolic Disorders, Prague, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic., Sovová J; Institute for Inherited Metabolic Disorders, Prague, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic., Hnízda A; Institute of Organic Chemistry and Biochemistry, Academy of Sciences of the Czech Republic, 166 10 Prague, Czech Republic., Kidd K; Section on Nephrology, Wake Forest School of Medicine, Medical Center Blvd., Winston-Salem, NC 27157, USA., Bleyer AJ; Section on Nephrology, Wake Forest School of Medicine, Medical Center Blvd., Winston-Salem, NC 27157, USA., Spong RS; Department of Medicine, Division of Renal Diseases and Hypertension, University of Minnesota, MN 55455, USA., Vande Walle J; Department of Pediatric Nephrology, University Hospital of Ghent, Ghent 9000, Belgium., Mortier G; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp 2650, Belgium., Brunner H; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Van Laer L; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp 2650, Belgium., Kmoch S; Institute for Inherited Metabolic Disorders, Prague, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic., Katsanis N; Center for Human Disease Modeling and Departments of Cell Biology and Psychiatry, Duke University, Durham, NC 27710, USA., Loeys BL; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp 2650, Belgium; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands. Electronic address: bart.loeys@uantwerpen.be.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2016 Jul 07; Vol. 99 (1), pp. 174-87.
Autor:
Davidson AE; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Liskova P; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, Prague 128 08, Czech Republic; Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, U Nemocnice 2, Prague 128 08, Czech Republic. Electronic address: petra.liskova@lf1.cuni.cz., Evans CJ; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Dudakova L; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, Prague 128 08, Czech Republic., Nosková L; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, Prague 128 08, Czech Republic., Pontikos N; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; UCL Genetics Institute, University College London, London WC1E 6BT, UK., Hartmannová H; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, Prague 128 08, Czech Republic., Hodaňová K; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, Prague 128 08, Czech Republic., Stránecký V; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, Prague 128 08, Czech Republic., Kozmík Z; Institute of Molecular Genetics, Vídeňská 1083, Prague 142 20, Czech Republic., Levis HJ; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Idigo N; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Sasai N; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Maher GJ; Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Bellingham J; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Veli N; Moorfields Eye Hospital, London EC1V 2PD, UK., Ebenezer ND; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Cheetham ME; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Daniels JT; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Thaung CM; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK., Jirsova K; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, Prague 128 08, Czech Republic., Plagnol V; UCL Genetics Institute, University College London, London WC1E 6BT, UK., Filipec M; European Eye Clinic Lexum, Antala Staška 1670/80, Prague 140 00, Czech Republic., Kmoch S; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, Prague 128 08, Czech Republic., Tuft SJ; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK., Hardcastle AJ; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK. Electronic address: a.hardcastle@ucl.ac.uk.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2016 Jan 07; Vol. 98 (1), pp. 75-89. Date of Electronic Publication: 2015 Dec 31.
Autor:
Ehling R; Department of Neurology, Innsbruck Medical University, Innsbruck, Austria., Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Benke T, Kovacs GG, Ströbel T, Niedermüller U, Wagner M, Nachbauer W, Janecke A, Budka H, Boesch S, Kmoch S
Publikováno v:
Journal of the neurological sciences [J Neurol Sci] 2013 Mar 15; Vol. 326 (1-2), pp. 75-82. Date of Electronic Publication: 2013 Feb 13.
Autor:
Nosková L; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2011 Aug 12; Vol. 89 (2), pp. 241-52. Date of Electronic Publication: 2011 Aug 04.
Autor:
Cízková A; Institute of Inherited Metabolic Disorders, Charles University of Prague, First Faculty of Medicine, Prague 12808, Czech Republic., Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansíková H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houstek J, Kmoch S
Publikováno v:
Nature genetics [Nat Genet] 2008 Nov; Vol. 40 (11), pp. 1288-90. Date of Electronic Publication: 2008 Oct 26.
Autor:
Hrebícek M; Institute for Inherited Metabolic Disorders, Charles University 1st School of Medicine, Prague, Czech Republic., Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2006 Nov; Vol. 79 (5), pp. 807-19. Date of Electronic Publication: 2006 Sep 08.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.