Hasil Pencarian - Elsebet Østergaard

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  1. 1
    Correspondence to: “Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency” and “A novel NDUFA1 mutation leads to progressive mitochondrial complex I- specific neurodegenerative disease”

    Correspondence to: “Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency” and “A novel NDUFA1 mutation leads to progressive mitochondrial comp... oleh Jack Junchi Xu, Elsebet Østergaard

    Diterbitkan 2017-12-01
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  2. 2
    Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia

    Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia oleh Olivia Sarah Strandbech, Allan Lund, Elsebet Ostergaard

    Diterbitkan 2021-05-01
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  3. 3
    A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses

    A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses oleh Morten Alstrup, Ida Vogel, Puk Sandager, Jenny Blechingberg, Naja Becher, Elsebet Østergaard

    Diterbitkan 2021-05-01
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  4. 4
    Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

    Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations oleh Kirstine Ravn, Bitten Schönewolf-Greulich, Rikke M. Hansen, Anna-Helene Bohr, Morten Duno, Flemming Wibrand, Elsebet Ostergaard

    Diterbitkan 2015-06-01
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  5. 5
    HSP60 chaperone deficiency disrupts the mitochondrial matrix proteome and dysregulates cholesterol synthesis

    HSP60 chaperone deficiency disrupts the mitochondrial matrix proteome and dysregulates cholesterol synthesis oleh Cagla Cömert, Kasper Kjær-Sørensen, Jakob Hansen, Jasper Carlsen, Jesper Just, Brandon F. Meaney, Elsebet Østergaard, Yonglun Luo, Claus Oxvig, Lisbeth Schmidt-Laursen, Johan Palmfeldt, Paula Fernandez-Guerra, Peter Bross

    Diterbitkan 2024-10-01
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  6. 6
    The postgraduate medical educational climate assessed by the Danish Residency Educational Climate Test (DK-RECT): a validation and cross-sectional observational study

    The postgraduate medical educational climate assessed by the Danish Residency Educational Climate Test (DK-RECT): a validation and cross-sectional observational study oleh Rikke Borre Jacobsen, Klarke Boor, Karl Bang Christensen, Vilde Hansteen Ung, Jørn Carlsen, Ole Kirk, Morten Hanefeld Dziegiel, Elsebet Østergaard, Per Rochat, Elisabeth Albrecht-Beste, Marjoes Droogh, Therese S. Lapperre, Fedde Scheele, Jette Led Sørensen

    Diterbitkan 2023-12-01
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  7. 7
    Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

    Renal Phenotype in Mitochondrial Diseases: A Multicenter Study oleh Maria Parasyri, Per Brandström, Johanna Uusimaa, Elsebet Ostergaard, Omar Hikmat, Pirjo Isohanni, Karin Naess, I.F.M. de Coo, Andrés Nascimento Osorio, Matti Nuutinen, Christopher Lindberg, Laurence A. Bindoff, Már Tulinius, Niklas Darin, Kalliopi Sofou

    Diterbitkan 2022-01-01
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  8. 8
    The impact of gender, puberty, and pregnancy in patients with POLG disease

    The impact of gender, puberty, and pregnancy in patients with POLG disease oleh Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal M. E. Tallaksen, Christian Samsonsen, Eylert Brodtkorb, Elsebet Ostergaard, Rene de Coo, Leticia Pias‐Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darin, Shamima Rahman, Laurence A. Bindoff

    Diterbitkan 2020-10-01
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  9. 9
    Cerebral Palsy – Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention

    Cerebral Palsy – Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention oleh Christina Engel Hoei-Hansen, Lene Weber, Mette Johansen, Rebecca Fabricius, Jonas Kjeldbjerg Hansen, Anne-Cathrine F. Viuff, Gitte Rønde, Gitte Holst Hahn, Elsebet Østergaard, Morten Duno, Vibeke Andrée Larsen, Camilla Gøbel Madsen, Katrine Røhder, Ann-Kristin Gunnes Elvrum, Britt Laugesen, Melanie Ganz, Kathrine Skak Madsen, Maria Willerslev-Olsen, Nanette Mol Debes, Jan Christensen, Robin Christensen, Gija Rackauskaite

    Diterbitkan 2023-10-01
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  10. 10
    SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

    SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease oleh Philipp Gut, Sanna Matilainen, Jesse G. Meyer, Pieti Pällijeff, Joy Richard, Christopher J. Carroll, Liliya Euro, Christopher B. Jackson, Pirjo Isohanni, Berge A. Minassian, Reem A. Alkhater, Elsebet Østergaard, Gabriele Civiletto, Alice Parisi, Jonathan Thevenet, Matthew J. Rardin, Wenjuan He, Yuya Nishida, John C. Newman, Xiaojing Liu, Stefan Christen, Sofia Moco, Jason W. Locasale, Birgit Schilling, Anu Suomalainen, Eric Verdin

    Diterbitkan 2020-11-01
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  11. 11
    NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

    NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum oleh Bibiche den Hollander, Bibiche den Hollander, Bibiche den Hollander, Anne Rasing, Merel A. Post, Merel A. Post, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Michèl A. Willemsen, Dirk J. Lefeber, Dirk J. Lefeber, Dirk J. Lefeber, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek

    Diterbitkan 2021-06-01
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  12. 12
    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? oleh Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann

    Diterbitkan 2018-07-01
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  13. 13
    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders oleh Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

    Diterbitkan 2022-01-01
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