검색어 : 통합검색[Human molecular genetics 3]
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901
- SAIL—a software system for sample and phenotype availability across biobanks and cohorts
- Gostev, Mikhail; Fernandez-Banet, Julio; Rung, Johan; Dietrich, Joern; Prokopenko, Inga; Ripatti, Samuli; McCarthy, Mark I.; Brazma, Alvis; Krestyaninova, Maria; EMBL-EBI, European Molecular Biology Laboratory, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, Oxford, OX3 7BN, UK, Institute for Molecular Medicine Finland FIMM, 00014 University of Helsinki and Public Health Genomics, National Institute for Health and Welfare, 00271 Helsinki, Finland; EMBL-EBI, European Molecular Biology Laboratory, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, Oxford, OX3 7BN, UK, Institute for Molecular Medicine Finland FIMM, 00014 University of Helsinki and Public Health Genomics, National Institute for Health and Welfare, 00271 Helsinki, Finland; EMBL-EBI, European Molecular Biology Laboratory, Wel; (Bioinformatics, v.27, 2011, pp.589-591)
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902
- Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
- Arking, Dan E; Pulit, Sara L; Crotti, Lia; van der Harst, Pim; Munroe, Patricia B; Koopmann, Tamara T; Sotoodehnia, Nona; Rossin, Elizabeth J; Morley, Michael; Wang, Xinchen; Johnson, Andrew D; Lundby, Alicia; Gudbjartsson, Daniel F; Noseworthy, Peter A; Eijgelsheim, Mark; Bradford, Yuki; Tarasov, Kirill V; Dorr, Marcus; Muller-Nurasyid, Martina; Lahtinen, Annukka M; Nolte, Ilja M; Smith, Albert Vernon; Bis, Joshua C; Isaacs, Aaron; Newhouse, Stephen J; Evans, Daniel S; Post, Wendy S; Waggott, Daryl; Lyytikainen, Leo-Pekka; Hicks, Andrew A; Eisele, Lewin; Ellinghaus, David; Hayward, Caroline; Navarro, Pau; Ulivi, Sheila; Tanaka, Toshiko; Tester, David J; Chatel, Stephanie; Gustafsson, Stefan; Kumari, Meena; Morris, Richard W; Naluai, Asa T; Padmanabhan, Sandosh; Kluttig, Alexander; Strohmer, Bernhard; Panayiotou, Andrie G; Torres, Maria; Knoflach, Michael; Hubacek, Jaroslav A; Slowikowski, Kamil; 1] Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. [2]; 1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands. [4]; 1] Department of Molecular Medicine, Section of Cardiology, University of Pavia, Pavia, Italy. [2] Center for Cardiac Arrhythmias of Genetic Origin, Istituto di Ricerca e Cura a Carattere Scientifico Istituto Auxologico Italiano, Milan, Italy. [3] Institute of Human Genetics, Helmholtz Zentrum Munchen, Neuherberg, Germany.; 1] Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. [2] Department of Genetics, University of; (Nature genetics, v.46, 2014, pp.826-836)
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903
- Cytogenetics, in situ hybridization and molecular approaches in the diagnosis of cancer.
- Glassman, A B; ; (Annals of clinical and laboratory science, v.28, 1998, pp.324-330)
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904
- Molecular control of endothelial cell behaviour during blood vessel morphogenesis
- Herbert, Shane P.; Stainier, Didier Y. R.; 1] Department of Biochemistry and Biophysics, Programs in Developmental and Stem Cell Biology, Genetics and Human Genetics, Cardiovascular Research Institute, University of California, San Francisco, California 94158, USA. [2] Multidisciplinary Cardiovascular Research Centre and Institute of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, UK. [3] Faculty of Life Sciences, Michael Smith Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK.; Department of Biochemistry and Biophysics, Programs in Developmental and Stem Cell Biology, Genetics and Human Genetics, Cardiovascular Research Institute, University of California, San Francisco, California 94158, USA.; (Nature reviews. Molecular cell biology, v.12, 2011, pp.551-564)
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905
- DDX5 resolves R-loops at DNA double-strand breaks to promote DNA repair and avoid chromosomal deletions
- Yu, Zhenbao; Mersaoui, Sofiane Y; Guitton-Sert, Laure; Coulombe, Yan; Song, Jingwen; Masson, Jean-Yves; Richard, Sté phane; Segal Cancer Center, Lady Davis Institute for Medical Research and Gerald Bronfman Department of Oncology and Departments of Biochemistry, Human Genetics and Medicine, McGill University , Montré al, Qué bec H3T 1E2, Canada; Genome Stability Laboratory, CHU de Qué bec Research Center, Oncology Axis, Department of Molecular Biology, Medical Biochemistry and Pathology, Laval University Cancer Research Center , 9 McMahon, Qué bec City, Qué bec G1R 3S3, Canada; Genome Stability Laboratory, CHU de Qué bec Research Center, Oncology Axis, Department of Molecular Biology, Medical Biochemistry and Pathology, Laval University Cancer Research Center , 9 McMahon, Qué bec City, Qué bec G1R 3S3, Canada; Segal Cancer Center, Lady Davis Institute for Medical Research and Gerald Bronfman Department of Oncology and Departments of Biochemistry, Human Genetics and Me; (Nar cancer, v.2, 2020, pp.zcaa028)
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906
- Structure of 6-hydroxymethyl-7,8-dihydropterin pyrophosphokinase–dihydropteroate synthase from <i>Plasmodium vivax</i> sheds light on drug resistance
- Yogavel, Manickam; Nettleship, Joanne E.; Sharma, Akansha; Harlos, Karl; Jamwal, Abhishek; Chaturvedi, Rini; Sharma, Manmohan; Jain, Vitul; Chhibber-Goel, Jyoti; Sharma, Amit; From the Molecular Medicine-Structural Parasitology Group, International Centre for Genetic Engineering and Biotechnology, New Delhi 110067, India,; the Division of Structural Biology, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom, and; From the Molecular Medicine-Structural Parasitology Group, International Centre for Genetic Engineering and Biotechnology, New Delhi 110067, India,; the Division of Structural Biology, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom, and; From the Molecular Medicine-Structural Parasitology Group, International Centre for Genetic Engineering and Biotechnology, New Delhi 110067, India,; From the Molecular Medicine-Structural Parasitology Group, International Centre for Genetic Engineering and Biotechnology, New Delhi 110067, India,; From the Molecular Medicine-Structural Parasitology Group, International Centre for Genetic Engineeri; (The Journal of biological chemistry, v.293, 2018, pp.14962-14972)
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907
- A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity
- Al Qureshah, Fahd; Le Pen, Jé ré mie; de Weerd, Nicole A.; Moncada-Velez, Marcela; Materna, Marie; Lin, Daniel C.; Milisavljevic, Baptiste; Vianna, Fernanda; Bizien, Lucy; Lorenzo, Lazaro; Lecuit, Marc; Pommier, Jean-David; Keles, Sevgi; Ozcelik, Tayfun; Pedraza-Sanchez, Sigifredo; de Prost, Nicolas; El Zein, Loubna; Hammoud, Hassan; Ng, Lisa F.P.; Halwani, Rabih; Saheb Sharif-Askari, Narjes; Lau, Yu Lung; Tam, Anthony R.; Singh, Neha; Bhattad, Sagar; Berkun, Yackov; Chantratita, Wasun; Aguilar-Ló pez, Raú l; Shahrooei, Mohammad; Abel, Laurent; Aiuti, Alessandro; Al-Muhsen, Saleh; Alcá ntara-Garduñ o, Ana Bertha; Andreakos, Evangelos; Arias, André s A.; Feldman, Hagit Baris; Bastard, Paul; Bolze, Alexandre; Borghesi, Alessandro; Bousfiha, Ahmed A.; Brodin, Petter; Christodoulou, John; Cobat, Auré lie; Colobran, Roger; Condino-Neto, Antonio; Duvlis, Sotiriј a; Duval, Xavier; Dü ndar,; Rockefeller University 1 St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, , New York, NY,; The Rockefeller University 3 Laboratory of Virology and Infectious Disease, , New York, NY,; Hudson Institute of Medical Research and Monash University 4 Centre for Innate Immunity and Infectious Diseases, Department of Molecular and Translational Science, , Clayton,; Rockefeller University 1 St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, , New York, NY,; INSERM U1163, Necker Hospital for Sick Children 5 Laboratory of Human Genetics of Infectious Diseases, , Paris,; Rockefeller University 1 St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, , New York, NY,; Rockefeller University 1 St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, , New York, NY,; Hospital de Clí nicas de Porto Alegre 7 Laborató rio de Medicina Genô mica Centro de Pesquisa Expe; (The Journal of experimental medicine, v.222, 2025, pp.e20241413)
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908
- Membrane pores: from structure and assembly, to medicine and technology
- Gilbert, Robert J. C.; Bayley, Hagan; Anderluh, Gregor; Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, , Roosevelt Drive, Oxford OX3 7BN, UK; Chemistry Research Laboratory, University of Oxford, , 12 Mansfield Road, Oxford OX1 3TA, UK; Department of Molecular Biology and Nanobiotechnology, National Institute of Chemistry, , Hajdrihova 19, 1000 Ljubljana, Slovenia; (Philosophical transactions. Biological sciences, v.372, 2017, pp.20160208-20160208)
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909
- Generation of a Transcription Map at the HSD17B Locus Centromeric to <i>BRCA1</i> at 17q21
- Rommens, Johanna M.; Durocher, Francine; McArthur, Jodi; Tonin, Patricia; LeBlanc, Jean-Franç ois; Allen, Todd; Samson, Carolle; Ferri, Lorenzo; Narod, Steven; Morgan, Kenneth; Simard, Jacques; Department of Genetics, Research Institute, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, MSG 1X8; Medical Research Council Group in Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, Quebec, G1V 4G2; and Departments of Human Genetics and Medicine, McGill University, Montreal General Hospital Research Institute, Division of Medical Genetics, Royal Victoria Hospital, and Faculty of Medicine, Montreal General Hospital and McGill University, Montreal, Quebec, Canada H3G 1A4; Department of Genetics, Research Institute, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, MSG 1X8; Medical Research Council Group in Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, Quebec, G1V 4G2; and Departments of Human Genetics and Medicine, McGill University, Montreal General Hospital Research Institute, Di; (Genomics, v.28, 1995, pp.530-542)
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910
- Mutations in the Chromatin Regulator Gene <i>BRPF1</i> Cause Syndromic Intellectual Disability and Deficient Histone Acetylation
- Yan, Kezhi; Rousseau, Justine; Littlejohn, Rebecca Okashah; Kiss, Courtney; Lehman, Anna; Rosenfeld, Jill A.; Stumpel, Constance T.R.; Stegmann, Alexander P.A.; Robak, Laurie; Scaglia, Fernando; Nguyen, Thi Tuyet Mai; Fu, He; Ajeawung, Norbert F.; Camurri, Maria Vittoria; Li, Lin; Gardham, Alice; Panis, Bianca; Almannai, Mohammed; Sacoto, Maria J. Guillen; Baskin, Berivan; Ruivenkamp, Claudia; Xia, Fan; Bi, Weimin; Cho, Megan T.; Potjer, Thomas P.; Santen, Gijs W.E.; Parker, Michael J.; Canham, Natalie; McKinnon, Margaret; Potocki, Lorraine; MacKenzie, Jennifer J.; Roeder, Elizabeth R.; Campeau, Philippe M.; Yang, Xiang-Jiao; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 77030, USA; Kingston General Hospital, 76 Stuart Street, Armstrong 4, Kingston, ON K7L 2V7, Canada; Department of Medical Genetics, University of British Columbia, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, Maastricht 6229, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, Maastricht 6229, the Netherlands; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, H; (American journal of human genetics, v.100, 2017, pp.91-104)
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