Torthaí cuardaigh - Hans Eiberg
- 1 - 20 toradh as 21 á dtaispeáint
- Téigh chuig an gcéad leathanach eile
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1
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene de réir Hans Eiberg
Foilsithe / Cruthaithe 2005Artigo -
2
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified de réir Lars Hestbjerg Hansen, Hans Eiberg, Timothy Barrett, Toke Bek, Per Kjærsgaard, Lisbeth Tranebjærg, Thomas Rosenberg
Foilsithe / Cruthaithe 2005Artigo -
3
Genetic and epigenetic alterations of the blood group <i>ABO</i> gene in oral squamous cell carcinoma de réir Shan Gao, Jesper Worm, Per Guldberg, Hans Eiberg, Annelise Krogdahl, Chung‐Ji Liu, Jesper Reibel, Erik Dabelsteen
Foilsithe / Cruthaithe 2003Artigo -
4
High brain serotonin levels in migraine between attacks: A 5-HT4 receptor binding PET study de réir Marie Deen, Hanne D. Hansen, Anders Hougaard, Martin Nørgaard, Hans Eiberg, Szabolcs Lehel, Messoud Ashina, Gitte M. Knudsen
Foilsithe / Cruthaithe 2018Artigo -
5
Loss of the retinoblastoma protein-related p130 protein in small cell lung carcinoma de réir Kristian Helin, Karin Holm, Anita Niebuhr, Hans Eiberg, Niels Tommerup, Susanne Hougaard, Hans Skovgaard Poulsen, Mogens Spang‐Thomsen, Peter Nørgaard
Foilsithe / Cruthaithe 1997Artigo -
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 de réir K. M. Sanggaard, Nanna Dahl Rendtorff, Klaus Kjaer, Hans Eiberg, Torsten Johnsen, Steen Gimsing, Jørgen Dyrmose, Kristian Otto Nielsen, Kasper Lage, Lisbeth Tranebjærg
Foilsithe / Cruthaithe 2007Artigo -
7
Cardiac involvement in myotonic dystrophy: a nationwide cohort study de réir Marie Lund, Lars Jorge Díaz, Mattis Flyvholm Ranthe, Helle Petri, Morten Dunø, Inger Juncker, Hans Eiberg, John Vissing, Henning Bundgaard, Jan Wohlfahrt, Mads Melbye
Foilsithe / Cruthaithe 2014Artigo -
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 de réir 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
Foilsithe / Cruthaithe 2008Artigo -
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 Ta... de réir 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
Foilsithe / Cruthaithe 1998Artigo -
10
A missense mutation in <i>FIC1</i> is associated with greenland familial cholestasis de réir 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
Foilsithe / Cruthaithe 2000Artigo -
11
Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes de réir 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
Foilsithe / Cruthaithe 2016Artigo -
12
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young de réir 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
Foilsithe / Cruthaithe 2007Artigo -
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... de réir 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
Foilsithe / Cruthaithe 1997Artigo -
14
Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function de réir 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
Foilsithe / Cruthaithe 2002Artigo -
15
Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function de réir 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
Foilsithe / Cruthaithe 2002Artigo -
16
Serotonin 4 Receptor Brain Binding in Major Depressive Disorder and Association With Memory Dysfunction de réir 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
Foilsithe / Cruthaithe 2023Artigo -
17
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis de réir 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
Foilsithe / Cruthaithe 2020Artigo -
18
Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios de réir 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
Foilsithe / Cruthaithe 2015Artigo -
19
A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants de réir 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
Foilsithe / Cruthaithe 2017Revisão -
20
Sequencing and de novo assembly of 150 genomes from Denmark as a population reference de réir 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
Foilsithe / Cruthaithe 2017Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Biology
Gene
Genetics
Medicine
Internal medicine
Mutation
Endocrinology
Exon
Diabetes mellitus
Gene expression
Missense mutation
Molecular biology
Biochemistry
Bioinformatics
Environmental health
Insulin
Population
Receptor
Type 2 diabetes
Allele
Atrophy
Audiology
Cancer research
Carcinogenesis
Cell biology
Cell cycle
Computational biology
Danish
Epigenetics
Frameshift mutation