Výsledky vyhledávání - Hans Eiberg

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  1. 1
    Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

    Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene Autor Hans Eiberg

    Vydáno 2005
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  2. 2
    Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

    Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified Autor Lars Hestbjerg Hansen, Hans Eiberg, Timothy Barrett, Toke Bek, Per Kjærsgaard, Lisbeth Tranebjærg, Thomas Rosenberg

    Vydáno 2005
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  3. 3
    Genetic and epigenetic alterations of the blood group <i>ABO</i> gene in oral squamous cell carcinoma

    Genetic and epigenetic alterations of the blood group <i>ABO</i> gene in oral squamous cell carcinoma Autor Shan Gao, Jesper Worm, Per Guldberg, Hans Eiberg, Annelise Krogdahl, Chung‐Ji Liu, Jesper Reibel, Erik Dabelsteen

    Vydáno 2003
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  4. 4
    High brain serotonin levels in migraine between attacks: A 5-HT4 receptor binding PET study

    High brain serotonin levels in migraine between attacks: A 5-HT4 receptor binding PET study Autor Marie Deen, Hanne D. Hansen, Anders Hougaard, Martin Nørgaard, Hans Eiberg, Szabolcs Lehel, Messoud Ashina, Gitte M. Knudsen

    Vydáno 2018
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  5. 5
    Loss of the retinoblastoma protein-related p130 protein in small cell lung carcinoma

    Loss of the retinoblastoma protein-related p130 protein in small cell lung carcinoma Autor Kristian Helin, Karin Holm, Anita Niebuhr, Hans Eiberg, Niels Tommerup, Susanne Hougaard, Hans Skovgaard Poulsen, Mogens Spang‐Thomsen, Peter Nørgaard

    Vydáno 1997
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  6. 6
    Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

    Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses Autor K. M. Sanggaard, Nanna Dahl Rendtorff, Klaus Kjaer, Hans Eiberg, Torsten Johnsen, Steen Gimsing, Jørgen Dyrmose, Kristian Otto Nielsen, Kasper Lage, Lisbeth Tranebjærg

    Vydáno 2007
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  7. 7
    Cardiac involvement in myotonic dystrophy: a nationwide cohort study

    Cardiac involvement in myotonic dystrophy: a nationwide cohort study Autor Marie Lund, Lars Jorge Díaz, Mattis Flyvholm Ranthe, Helle Petri, Morten Dunø, Inger Juncker, Hans Eiberg, John Vissing, Henning Bundgaard, Jan Wohlfahrt, Mads Melbye

    Vydáno 2014
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  8. 8
    Variants Near <i>MC4R</i> Are Associated With Obesity and Influence Obesity-Related Quantitative Traits in a Population of Middle-Aged People: Studies of 14,940 Danes

    Variants Near <i>MC4R</i> Are Associated With Obesity and Influence Obesity-Related Quantitative Traits in a Population of Middle-Aged People: Studies of 14,940 Danes Autor Dorit P. Zobel, Camilla Andreasen, Niels Grarup, Hans Eiberg, Thorkild I. A. Sørensen, Annelli Sandbæk, Torsten Lauritzen, Knut Borch‐Johnsen, Torben Jørgensen, Oluf Pedersen, Torben Hansen

    Vydáno 2008
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  9. 9
    Cloning of a Human UDP-N-Acetyl-α-d-Galactosamine:PolypeptideN-Acetylgalactosaminyltransferase That Complements Other GalNAc-Transferases in Complete O-Glycosylation of the MUC1 Tandem Repeat

    Cloning of a Human UDP-N-Acetyl-α-d-Galactosamine:PolypeptideN-Acetylgalactosaminyltransferase That Complements Other GalNAc-Transferases in Complete O-Glycosylation of the MUC1 Ta... Autor Eric Bennett, Helle Hassan, Ulla Mandel, Ekatarina Mirgorodskaya, Peter Roepstorff, Joy Burchell, Joyce Taylor‐Papadimitriou, Michael A. Hollingsworth, Gerard Merkx, Ad Geurts van Kessel, Hans Eiberg, Rudi Steffensen, Henrik Clausen

    Vydáno 1998
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  10. 10
    A missense mutation in <i>FIC1</i> is associated with greenland familial cholestasis

    A missense mutation in <i>FIC1</i> is associated with greenland familial cholestasis Autor Leo W. J. Klomp, Laura N. Bull, Alexander S. Knisely, Marjolein A.M. van der Doelen, Jenneke A. Juijn, Ruud Berger, Sylviane Forget, Inge-Merete Nielsen, Hans Eiberg, Roderick H.J. Houwen

    Vydáno 2000
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  11. 11
    Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes

    Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes Autor Karl Bacos, Linn Gillberg, Petr Volkov, Anders H. Olsson, Torben Hansen, Oluf Pedersen, Anette P. Gjesing, Hans Eiberg, Jaakko Tuomilehto, Peter Almgren, Leif Groop, Lena Eliasson, Allan Vaag, Tasnim Dayeh, Charlotte Ling

    Vydáno 2016
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  12. 12
    Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young

    Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young Autor Sian Ellard, K. Thomas, Emma L. Edghill, Martina Owens, Louise Ambye, Julie Cropper, Jill Little, M. Strachan, Amanda Stride, Betül Ersoy, Hans Eiberg, Oluf Pedersen, Maggie Shepherd, Torben Hansen, Lorna W. Harries, Andrew T. Hattersley

    Vydáno 2007
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  13. 13
    Novel MODY3 Mutations in the Hepatocyte Nuclear Factor-1α Gene: Evidence for a Hyperexcitability of Pancreatic β-cells to Intravenous Secretagogues in a Glucose-Tolerant Carrier of a P447L Mutation

    Novel MODY3 Mutations in the Hepatocyte Nuclear Factor-1α Gene: Evidence for a Hyperexcitability of Pancreatic β-cells to Intravenous Secretagogues in a Glucose-Tolerant Carrier of... Autor Torben Hansen, Hans Eiberg, Mathias Rouard, Martine Vaxillaire, Ann Merete Møller, Sören K. Rasmussen, Marianne Fridberg, Søren A. Urhammer, Jens J. Holst, Katrine Almind, Søren M. Echwald, Lars Hansen, Graeme I. Bell, Oluf Pedersen

    Vydáno 1997
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  14. 14
    Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function

    Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function Autor Sara K. Hansen, Marcelina Párrizas, Maria L. Jensen, Štěpánka Průhová, Jakob Ek, Sylvia F. Boj, Anders Johansen, M.A. Maestro, Francisca Rivera, Hans Eiberg, Michal Anděl, Jan Lebl, Oluf Pedersen, Jorge Ferrer, Torben Hansen

    Vydáno 2002
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  15. 15
    Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function

    Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function Autor Sara K. Hansen, Marcelina Párrizas, Maria L. Jensen, Štěpánka Průhová, Jakob Ek, Sylvia F. Boj, Anders Johansen, M.A. Maestro, Francisca Rivera, Hans Eiberg, Michal Anděl, Jan Lebl, Oluf Pedersen, Jorge Ferrer, Torben Hansen

    Vydáno 2002
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  16. 16
    Serotonin 4 Receptor Brain Binding in Major Depressive Disorder and Association With Memory Dysfunction

    Serotonin 4 Receptor Brain Binding in Major Depressive Disorder and Association With Memory Dysfunction Autor Kristin Köhler‐Forsberg, Vibeke H. Dam, Brice Ozenne, Anjali Sankar, Vincent Beliveau, Elizabeth B. Landman, Søren Vinther Larsen, Asbjørn S. Poulsen, Cheng-Teng Ip, Anders Jørgensen, Michal Meyer, Dea Siggaard Stenbæk, Hans Eiberg, Jacob Madsen, Claus Svarer, Martin Balslev Jørgensen, Vibe G. Frøkjær, Gitte M. Knudsen

    Vydáno 2023
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  17. 17
    RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

    RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis Autor Muhammad Farooq, Louise Lindbæk, Nicolai Krogh, Canan Doğanlı, Cecilie Keller, Maren Mönnich, André Brás Gonçalves, Srinivasan Sakthivel, Yuan Mang, Ambrin Fatima, Vivi Søgaard Andersen, Muhammad Sajid Hussain, Hans Eiberg, Lars Hestbjerg Hansen, Klaus Kjaer, Jay Gopalakrishnan, Lotte B. Pedersen, Kjeld Møllgård, Henrik Nielsen, Shahid Mahmood Baig, Niels Tommerup, Søren T. Christensen, Lars Allan Larsen

    Vydáno 2020
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  18. 18
    Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

    Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios Autor Søren Besenbacher, Siyang Liu, José M. G. Izarzugaza, Jakob Grove, Kirstine Belling, Jette Bork‐Jensen, Shujia Huang, Thomas D. Als, Shengting Li, Rachita Yadav, Arcadio Rubio-García, Francesco Lescai, Ditte Demontis, Junhua Rao, Weijian Ye, Thomas Mailund, Rune M. Friborg, Christian N. S. Pedersen, Ruiqi Xu, Jihua Sun, Hao Liu, Ou Wang, Xiaofang Cheng, David S. C. Flores, Emil Rydza, Kristoffer Rapacki, John Damm Sørensen, Piotr Jaroslaw Chmura, David Westergaard, Piotr Dworzyński, Thorkild I. A. Sørensen, Ole Lund, Torben Hansen, Xun Xu, Ning Li, Lars Bolund, Oluf Pedersen, Hans Eiberg, Anders Krogh, Anders D. Børglum, Søren Brunak, Karsten Kristiansen, Mikkel Heide Schierup, Jun Wang, Ramneek Gupta, Palle Villesen, Simon Rasmussen

    Vydáno 2015
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  19. 19
    A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants

    A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants Autor Andrew R. Wood, Anna Jonsson, Anne Jackson, Nan Wang, Nienke van Leewen, Colin N. A. Palmer, Sayuko Kobes, Joris Deelen, Lorena Boquete-Vilarino, Jussi Paananen, Alena Stančáková, Dorret I. Boomsma, Eco J. C. de Geus, Elisabeth M. W. Eekhoff, Andreas Fritsche, Mark H.H. Kramer, Giel Nijpels, Annemarie M. Simonis-Bik, Timon W. van Haeften, Anubha Mahajan, Michael Boehnke, Richard N. Bergman, Jaakko Tuomilehto, Francis S. Collins, Karen L. Mohlke, Karina Banasik, Christopher J. Groves, Mark I. McCarthy, Ewan R. Pearson, Andrea Natali, Andrea Mari, Thomas A. Buchanan, Kent D. Taylor, Anny H. Xiang, Anette P. Gjesing, Niels Grarup, Hans Eiberg, Oluf Pedersen, Yii-Derr Chen, Markku Laakso, Jill M. Norris, Ulf Smith, Lynne E. Wagenknecht, Leslie J. Baier, Donald W. Bowden, Torben Hansen, Mark Walker, Richard M. Watanabe, Leen M. ’t Hart, Robert L. Hanson, Timothy M. Frayling

    Vydáno 2017
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  20. 20
    Sequencing and de novo assembly of 150 genomes from Denmark as a population reference

    Sequencing and de novo assembly of 150 genomes from Denmark as a population reference Autor Lasse Maretty, Jacob Malte Jensen, Bent Petersen, Jonas A. Sibbesen, Siyang Liu, Palle Villesen, Laurits Skov, Kirstine Belling, Henri Theil, José M. G. Izarzugaza, Marie Grosjean, Jette Bork‐Jensen, Jakob Grove, Thomas D. Als, Shujia Huang, Yuqi Chang, Ruiqi Xu, Weijian Ye, Junhua Rao, Xiaosen Guo, Jihua Sun, Hongzhi Cao, Chen Ye, Johan van Beusekom, Thomas Espeseth, Esben N. Flindt, Rune M. Friborg, Anders E. Halager, Stéphanie Le Hellard, Christina M. Hultman, Francesco Lescai, Shengting Li, Ole Lund, Peter Løngren, Thomas Mailund, María Luisa Matey-Hernandez, Ole Mors, Christian N. S. Pedersen, Thomas Sicheritz‐Pontén, Patrick F. Sullivan, Ali Syed, David Westergaard, Rachita Yadav, Ning Li, Xun Xu, Torben Hansen, Anders Krogh, Lars Bolund, Thorkild I. A. Sørensen, Oluf Pedersen, Ramneek Gupta, Simon Rasmussen, Søren Besenbacher, Anders D. Børglum, Jun Wang, Hans Eiberg, Karsten Kristiansen, Søren Brunak, Mikkel Heide Schierup

    Vydáno 2017
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