검색어 : 통합검색[Human molecular genetics 3]
총 3,414건 중 1,000건 출력
, 67/100 페이지
-
661
- Stromal cell-derived receptor 2 and cytochrome <I>b</I>561 are functional ferric reductases
- Vargas, J.D.; Herpers, B.; McKie, A.T.; Gledhill, S.; McDonnell, J.; van den Heuvel, M.; Davies, K.E.; Ponting, C.P.; ; (Biochimica et biophysica acta. Proteins and proteomics, v.1651, 2003, pp.116-123)
-
662
- First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine
- Vanmolkot, Kaate R J; Stam, Anine H; Raman, Ashok; Koenderink, Jan B; de Vries, Boukje; van den Boogerd, Eelke H; van Vark, Judith; van den Heuvel, Jeroen J M W; Bajaj, Nin; Terwindt, Gisela M; Haan, Joost; Frants, Rune R; Ferrari, Michel D; van den Maagdenberg, Arn M J M; 1Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands; 2Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands; 3Department of Neurology, Queens Medical Centre, Nottingham, UK; 4Department of Pharmacology & Toxicology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, The Netherlands; 1Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands; 1Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands; 1Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands; 4Department of Pharmacology & Toxicology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, The Netherlands; 3Department of Neurology, Queens Medical Centre, Nottingham, UK; 2Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands; [1] 2Department of Neurolo; (European journal of human genetics : EJHG, v.15, 2007, pp.884-888)
-
663
- IFN-α-2b-Induced Signal Transduction and Gene Regulation in Patient Peripheral Blood Mononuclear Cells Is Not Enhanced by a Dose Increase from 5 to 10 Megaunits/m2
- Zimmerer, Jason M.; Lehman, Amy M.; Ruppert, Amy S.; Noble, Carl W.; Olencki, Thomas; Walker, Michael J.; Kendra, Kari; Carson III, William E.; 1Integrated Biological Sciences Graduate Program,; 3Center for Biostatistics, and; 3Center for Biostatistics, and; 2Human Cancer Genetics Program, Department of Molecular Virology, Immunology, and Medical Genetics,; 4Department of Surgery, and the Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, The Ohio State University, Columbus, Ohio; 4Department of Surgery, and the Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, The Ohio State University, Columbus, Ohio; 4Department of Surgery, and the Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, The Ohio State University, Columbus, Ohio; 2Human Cancer Genetics Program, Department of Molecular Virology, Immunology, and Medical Genetics,; (Clinical Cancer research : an official journal of the American Association for Cancer Research, v.14, 2008, pp.1438-1445)
-
664
- Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigold International Workshop Report
- Thompson, Rachel; Schoser, Benedikt; Monckton, Darren G.; Blonsky, Karla; Lochmü ller, Hanns; ; (Neuromuscular disorders : NMD, v.19, 2009, pp.860-866)
-
665
- Association of insulin gene VNTR polymorphism with polycystic ovary syndrome
- Bennett, Simon T; Todd, John A; Waterworth, Dawn M; Franks, Steve; McCarthy, Mark I; ; (The Lancet, v.349, 1997, pp.1771-1772)
-
666
- Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome
- Bé langer, Catherine; Bé é é rubé é é é -Simard, Fé é lix-Antoine; Leduc, Elizabeth; Bernas, Guillaume; Campeau, Philippe M.; Lalani, Seema R.; Martin, Donna M.; Bielas, Stephanie; Moccia, Amanda; Srivastava, Anshika; Silversides, David W.; Pilon, Nicolas; Molecular Genetics of Development Laboratory, Department of Biological Sciences, University of Quebec at Montreal, Montreal, QC H2X 3Y7, Canada; ; Molecular Genetics of Development Laboratory, Department of Biological Sciences, University of Quebec at Montreal, Montreal, QC H2X 3Y7, Canada; ; Molecular Genetics of Development Laboratory, Department of Biological Sciences, University of Quebec at Montreal, Montreal, QC H2X 3Y7, Canada; ; Molecular Genetics of Development Laboratory, Department of Biological Sciences, University of Quebec at Montreal, Montreal, QC H2X 3Y7, Canada; ; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada; ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030; ; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109; ; ; ; ; Department of Veterinary Biomedicine, Faculty of Veterinary Medicine, University of Montreal, Montreal, QC J2S 2M2, Canada; Molecular Genet; (Proceedings of the National Academy of Sciences of the United States of America, v.115, 2018, pp.E620-E629)
-
667
- Assessing association between protein truncating variants and quantitative traits
- Rivas, Manuel A.; Pirinen, Matti; Neville, Matthew J.; Gaulton, Kyle J.; Moutsianas, Loukas; Lindgren, Cecilia M.; Karpe, Fredrik; McCarthy, Mark I.; Donnelly, Peter; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and Department of Statistics, University of Oxford, Oxford OX1 3TG, UK; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and Department of Statistics, University of Oxford, Oxford OX1 3TG, UK; Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine,; (Bioinformatics, v.29, 2013, pp.2419-2426)
-
668
- Increased plasma non-esterified fatty acids and platelet-activating factor acetylhydrolase are associated with susceptibility to atherosclerosis in mice
- SINGH, Uma; ZHONG, Shumei; XIONG, Momiao; LI, Tong-bin; SNIDERMAN, Allan; TENG, Ba-Bie; Research Center for Human Genetics, Institute of Molecular Medicine, The University of Texas Health Science Center at Houston, 2121 W. Holcombe Blvd, Houston, TX 77030, U.S.A.; Research Center for Human Genetics, Institute of Molecular Medicine, The University of Texas Health Science Center at Houston, 2121 W. Holcombe Blvd, Houston, TX 77030, U.S.A.; Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, 2121 W. Holcombe Blvd, Houston, TX 77030, U.S.A.; Research Center for Human Genetics, Institute of Molecular Medicine, The University of Texas Health Science Center at Houston, 2121 W. Holcombe Blvd, Houston, TX 77030, U.S.A.; Mike Rosenbloom Laboratory for Cardiovascular Research, McGill University, Montreal, Quebec, Canada H3A 1A1; Research Center for Human Genetics, Institute of Molecular Medicine, The University of Texas Health Science Center at Houston, 2121 W. Holcombe Blvd, Houston, TX 77030, U.S.A.; (Clinical science, v.106, 2004, pp.421-432)
-
669
- MOLECULAR MECHANISMS FOR CONSTITUTIONAL CHROMOSOMAL REARRANGEMENTS IN HUMANS
- Shaffer, Lisa G.; Lupski, James R.; 1Department of Molecular and Human Genetics, 2Department of Pediatrics, Baylor College of Medicine, and 3Texas Children's Hospital, Houston, Texas 77030; e-mail: lshaffer@bcm.tmc.edu jlupski@bcm.tmc.edu; (Annual review of genetics, v.34, 2000, pp.297-329)
-
670
- Mutations in <i>CDK5RAP2</i> cause Seckel syndrome
- Yigit, Gö khan; Brown, Karen E; Kayserili, Hü lya; Pohl, Esther; Caliebe, Almuth; Zahnleiter, Diana; Rosser, Elisabeth; Bö gershausen, Nina; Uyguner, Zehra Oya; Altunoglu, Umut; Nü rnberg, Gudrun; Nü rnberg, Peter; Rauch, Anita; Li, Yun; Thiel, Christian Thomas; Wollnik, Bernd; Institute of Human Genetics, University of Cologne Cologne, Germany; Chromosome Biology Group, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital London, W12 0NN, UK; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University Istanbul, Turkey; Institute of Human Genetics, University of Cologne Cologne, Germany; Institute of Human Genetics, Christian-Albrechts-University of Kiel Kiel, Germany; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg Erlangen, Germany; Department of Clinical Genetics, Great Ormond Street Hospital for Children London, WC1N 3EH, UK; Institute of Human Genetics, University of Cologne Cologne, Germany; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University Istanbul, Turkey; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University Istanbul, Turkey; Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne, Germa; (Molecular genetics & genomic medicine, v.3, 2015, pp.467-480)
QUICK MENU
