검색어 : 통합검색[Human molecular genetics 3]
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951
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Revisiting the T-cell receptor alpha/delta locus and possible associations with multiple sclerosis
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Watson, C T;
Para, A E;
Lincoln, M R;
Ramagopalan, S V;
Orton, S M;
Morrison, K M;
Handunnetthi, L;
Handel, A E;
Chao, M J;
Morahan, J;
Sadovnick, A D;
Breden, F;
Ebers, G C;
Department of Biological Sciences, Simon Fraser University, Burnaby, British Columbia, Canada;
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK;
1] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK [2] Department of Clinical Neurology, University of Oxford, The West Wing, John Radcliffe Hospital, Oxford, UK;
1] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK [2] Department of Clinical Neurology, University of Oxford, The West Wing, John Radcliffe Hospital, Oxford, UK [3] Blizard Institute of Cell and Molecular Science, Queen Mary University of London, Barts and The London School of Medicine and Dentistry, London, UK;
1] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK [2] Department of Clinical Neurology, University of Oxford, The West Wing, John Radcliffe Hospital, Oxford, UK;
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK;
1] Wellcome Trust Centre;
(Genes and immunity,
v.12,
2011,
pp.59-66)
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952
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Genetics in Otolaryngology: Translational Research
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Lesperance, Marci;
Gruber, Stephen B.;
Runge‐
Samuelson, Christina L.;
;
(Otolaryngology-head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery,
v.145,
2011,
)
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953
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Deubiquitination of FANCD2 Is Required for DNA Crosslink Repair
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Oestergaard, Vibe H.;
Langevin, Frederic;
Kuiken, Hendrik J.;
Pace, Paul;
Niedzwiedz, Wojciech;
Simpson, Laura J.;
Ohzeki, Mioko;
Takata, Minoru;
Sale, Julian E.;
Patel, Ketan J.;
Medical Research Council, Laboratory of Molecular Biology, Hills Road, Cambridge CB2 0QH, UK;
Medical Research Council, Laboratory of Molecular Biology, Hills Road, Cambridge CB2 0QH, UK;
Medical Research Council, Laboratory of Molecular Biology, Hills Road, Cambridge CB2 0QH, UK;
Medical Research Council, Laboratory of Molecular Biology, Hills Road, Cambridge CB2 0QH, UK;
Medical Research Council, Laboratory of Molecular Biology, Hills Road, Cambridge CB2 0QH, UK;
Medical Research Council, Laboratory of Molecular Biology, Hills Road, Cambridge CB2 0QH, UK;
Department of Human Genetics, Research Institute for Radiation Biology and Medicine, Hiroshima University,1-2-3 Kasumi, Minami-ku, Hiroshima, Japan 734-8553;
Department of Human Genetics, Research Institute for Radiation Biology and Medicine, Hiroshima University,1-2-3 Kasumi, Minami-ku, Hiroshima, Japan 734-8553;
Medical Research Council, Laboratory of Molecular Biology, Hills Road, Cambridge CB2 0QH, UK;
Medical Research;
(Molecular cell,
v.28,
2007,
pp.798-809)
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954
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LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
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Li, Yun;
Pawlik, Barbara;
Elcioglu, Nursel;
Aglan, Mona;
Kayserili, Hü
lya;
Yigit, Gö
khan;
Percin, Ferda;
Goodman, Frances;
Nü
rnberg, Gudrun;
Cenani, Asim;
Urquhart, Jill;
Chung, Boi-Dinh;
Ismail, Samira;
Amr, Khalda;
Aslanger, Ayca D.;
Becker, Christian;
Netzer, Christian;
Scambler, Pete;
Eyaid, Wafaa;
Hamamy, Hanan;
Clayton-Smith, Jill;
Hennekam, Raoul;
Nü
rnberg, Peter;
Herz, Joachim;
Temtamy, Samia A.;
Wollnik, Bernd;
Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany;
Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany;
Department of Pediatric Genetics, Marmara University Hospital, 34668 Istanbul, Turkey;
Departments of Clinical and Molecular Genetics, Division of Human Genetics & Genome Research, National Research Centre, 12311 Cairo, Egypt;
Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34094 Istanbul, Turkey;
Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany;
Department of Medical Genetics, Faculty of Medicine, Gazi University, 06500 Ankara, Turkey;
Clinical and Molecular Genetics Unit, Institute of Child Health, Great Ormond Street Hospital for Children, University College London, London WC1N 3JH, UK;
Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany;
GETAM, Cerrahpasa Medical School, Istanbul U;
(American journal of human genetics,
v.86,
2010,
pp.696-706)
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955
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High-resolution analysis of <i>cis</i>-acting regulatory networks at the α-globin locus
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Hughes, Jim R.;
Lower, Karen M.;
Dunham, Ian;
Taylor, Stephen;
De Gobbi, Marco;
Sloane-Stanley, Jacqueline A.;
McGowan, Simon;
Ragoussis, Jiannis;
Vernimmen, Douglas;
Gibbons, Richard J.;
Higgs, Douglas R.;
MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, , Oxford OX3 9DS, UK;
MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, , Oxford OX3 9DS, UK;
European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK;
Computational Biology Research Group, Weatherall Institute of Molecular Medicine, Oxford University, , Oxford OX3 9DS, UK;
MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, , Oxford OX3 9DS, UK;
MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, , Oxford OX3 9DS, UK;
Computational Biology Research Group, Weatherall Institute of Molecular Medicine, Oxford University, , Oxford OX3 9DS, UK;
Wellcome Trust Centre for Human Genetics, , Oxford OX3 7BN, UK;
MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, , Oxford OX3 9DS, UK;
(Philosophical transactions. Biological sciences,
v.368,
2013,
pp.20120361-20120361)
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956
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A complex phenotype with cystic renal disease
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Mü
ller, D;
Klopocki, E;
Neumann, L M;
Mundlos, S;
Taupitz, M;
Schulze, I;
Ropers, H-H;
Querfeld, U;
Ullmann, R;
1Department of Pediatric Nephrology, Charité
Campus Virchow, Berlin, Germany;
2Department of Medical Genetics, Charité
Campus Virchow, Berlin, Germany;
3Department of Human Genetics, Charité
Campus Virchow, Berlin, Germany;
2Department of Medical Genetics, Charité
Campus Virchow, Berlin, Germany;
4Department of Diagnostic and Interventional Radiology, Charité
Campus Virchow, Berlin, Germany;
5Department of Pediatric Immunology, Charité
Campus Virchow, Berlin, Germany;
6Max-Planck Institute of Molecular Genetics, Berlin, Germany;
1Department of Pediatric Nephrology, Charité
Campus Virchow, Berlin, Germany;
6Max-Planck Institute of Molecular Genetics, Berlin, Germany;
(Kidney international,
v.70,
2006,
pp.1656-1660)
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957
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Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
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Zankl, Andreas;
Jackson, Gail C;
Crettol, Laureane Mittaz;
Taylor, Jacky;
Elles, Rob;
Mortier, Geert R;
Spranger, Jurgen;
Zabel, Bernhard;
Unger, Sheila;
Merrer, Martine Le;
Cormier-Daire, Valerie;
Hall, Christine M;
Wright, Michael J;
Bonafe, Luisa;
Superti-Furga, Andrea;
Briggs, Michael D;
1Division of Molecular Paediatrics, Lausanne, Switzerland;
[1] 2National Genetics Reference Laboratory, Manchester, UK [2] 3Wellcome Trust Centre for Cell Matrix Research, Manchester, UK;
1Division of Molecular Paediatrics, Lausanne, Switzerland;
2National Genetics Reference Laboratory, Manchester, UK;
2National Genetics Reference Laboratory, Manchester, UK;
4University Hospital of Ghent, Ghent, Belgium;
5Johannes-Gutenberg University of Mainz, Mainz, Germany;
5Johannes-Gutenberg University of Mainz, Mainz, Germany;
1Division of Molecular Paediatrics, Lausanne, Switzerland;
6Hopital Necker-Enfants Malades, Paris, France;
6Hopital Necker-Enfants Malades, Paris, France;
7Great Ormond Street Hospital for Children, London, UK;
8Institute of Human Genetics, Newcastle-upon-Tyne, UK;
1Division of Molecular Paediatrics, Lausanne, Switzerland;
1Division of Molecular Paediatrics, Lausanne, Switzerland;
3Wellcome Trust Centre for Cell Matrix Research, Manchester, UK;
(European journal of human genetics : EJHG,
v.15,
2007,
pp.150-154)
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958
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Highly Selective 5-Formyluracil Labeling and Genome-wide Mapping Using (2-Benzimidazolyl)Acetonitrile Probe
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Wang, Yafen;
Liu, Chaoxing;
Wu, Fan;
Zhang, Xiong;
Liu, Sheng;
Chen, Zonggui;
Zeng, Weiwu;
Yang, Wei;
Zhang, Xiaolian;
Zhou, Yu;
Weng, Xiaocheng;
Wu, Zhiguo;
Zhou, Xiang;
College of Chemistry and Molecular Sciences, Key Laboratory of Biomedical Polymers of Ministry of Education, The Institute for Advanced Studies, Hubei Province Key Laboratory of Allergy and Immunology, Wuhan University, Wuhan, Hubei 430072, P. R. China;
College of Chemistry and Molecular Sciences, Key Laboratory of Biomedical Polymers of Ministry of Education, The Institute for Advanced Studies, Hubei Province Key Laboratory of Allergy and Immunology, Wuhan University, Wuhan, Hubei 430072, P. R. China;
College of Chemistry and Molecular Sciences, Key Laboratory of Biomedical Polymers of Ministry of Education, The Institute for Advanced Studies, Hubei Province Key Laboratory of Allergy and Immunology, Wuhan University, Wuhan, Hubei 430072, P. R. China;
College of Chemistry and Molecular Sciences, Key Laboratory of Biomedical Polymers of Ministry of Education, The Institute for Advanced Studies, Hubei Province Key Laboratory of Allergy and Immunology, Wuhan University, Wuhan, Hubei 43;
(iscience,
v.9,
2018,
pp.423-432)
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959.
- 삽살개의 백색증에 관여하는 원인 유전자의 탐색
- 全星國
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慶北大學校 大學院, 국내석사,
ⅱ, 80 p., 2005
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960
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Dynamic regulation of<i>Drosophila</i>nuclear receptor activity in vivo
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Palanker, Laura;
Necakov, Aleksandar S.;
Sampson, Heidi M.;
Ni, Ruoyu;
Hu, Chun;
Thummel, Carl S.;
Krause, Henry M.;
Department of Human Genetics, Howard Hughes Medical Institute, University of Utah School of Medicine, 15 N 2030 E Room 5100, Salt Lake City, UT 84112-5331,USA.;
Banting and Best Department of Medical Research, Graduate Department of Molecular and Medical Genetics, University of Toronto, Donnelly Centre for Cellular and Biomolecular Research, 160 College Street, Toronto, Ontario, M5S 3E1, Canada.;
Banting and Best Department of Medical Research, Graduate Department of Molecular and Medical Genetics, University of Toronto, Donnelly Centre for Cellular and Biomolecular Research, 160 College Street, Toronto, Ontario, M5S 3E1, Canada.;
Banting and Best Department of Medical Research, Graduate Department of Molecular and Medical Genetics, University of Toronto, Donnelly Centre for Cellular and Biomolecular Research, 160 College Street, Toronto, Ontario, M5S 3E1, Canada.;
Banting and Best Department of Medical Research, Graduate Department of Molecular and Medical Genetics, University of;
(Development,
v.133,
2006,
pp.3549-3562)