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검색어 : 통합검색[Human molecular genetics 3]

3,413건 중 1,000건 출력

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  • 101
    Oligomerization of human presenilin-1 fragments
    Hé bert, Sé bastien S; Godin, Chantal; Lé vesque, Georges; Molecular and Human Genetics Unit, CHUQ-Pavillon St-Franç ois d’Assise, 10 rue de l’Espinay, Quebec, QC, Canada G1L 3L5; Molecular and Human Genetics Unit, CHUQ-Pavillon St-Franç ois d’Assise, 10 rue de l’Espinay, Quebec, QC, Canada G1L 3L5; Molecular and Human Genetics Unit, CHUQ-Pavillon St-Franç ois d’Assise, 10 rue de l’Espinay, Quebec, QC, Canada G1L 3L5; (FEBS letters, v.550, 2003, pp.30-34)
  • 102
    A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion
    Franco, Luis M; de Ravel, Thomy; Graham, Brett H; Frenkel, Stephanie M; Van Driessche, Jozef; Stankiewicz, Pawel; Lupski, James R; Vermeesch, Joris R; Cheung, Sau Wai; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Centre for Human Genetics, Universitaire Ziekenhuizen Leuven, Leuven, Belgium; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; VZW Martine Van Camp, Diest, Belgium; [1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; [1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Texas Children's Hospital, Houston, TX, USA [3] Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Centre for Human Genetics, Universitaire Ziekenhuizen Leuven, Leuven, Belgium; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; (European journal of human genetics : EJHG, v.18, 2010, pp.258-261)
  • 103
    Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis
    Moloney, DM; Wall, SA; Ashworth, GJ; Oldridge, M; Glass, IA; Francomano, CA; Muenke, M; Wilkie, AOM; ; (The Lancet, v.349, 1997, pp.1059-1062)
  • 104
    Aberrant epithelial <i>GREM1</i> expression initiates colonic tumorigenesis from cells outside of the crypt base stem cell niche
    Davis, Hayley; Irshad, Shazia; Bansal, Mukesh; Rafferty, Hannah; Boitsova, Tatjana; Bardella, Chiara; Jaeger, Emma; Lewis, Annabelle; Freeman-Mills, Luke; Giner, Francesc Castro; Rodenas-Cuadrado, Pedro; Mallappa, Sreelakshmi; Clark, Susan; Thomas, Huw; Jeffery, Rosemary; Poulsom, Richard; Rodriguez-Justo, Manuel; Novelli, Marco; Chetty, Runjan; Silver, Andrew; Sansom, Owen James; Greten, Florian R; Wang, Lai Mun; East, James Edward; Tomlinson, Ian; Leedham, Simon John; Gastrointestinal Stem cell Biology Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK; Gastrointestinal Stem cell Biology Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK; Department of Systems Biology, Columbia University Medical Center, New York, NY, USA.; Gastrointestinal Stem cell Biology Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK; Gastrointestinal Stem cell Biology Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK.; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK.; Molecular an; (Nature medicine, v.21, 2015, pp.62-70)
  • 105
    Inflammatory Disease and Abortive Platelet Shedding Caused by a Mutation in a Pivotal Regulator of Actin Dynamics in the redears Mouse.
    Justice, Monica J.; Kile, Ben T.; Woodward, Lanette S.; (Intr. by Paul F Bray)1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; 2Cancer and Haematology Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia and 3Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; (Intr. by Paul F Bray)1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; 2Cancer and Haematology Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia and 3Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; (Intr. by Paul F Bray)1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; 2Cancer and Haematology Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia and 3Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; (Blood, v.104, 2004, pp.1606-1606)
  • 106
    Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype&#x2013;phenotype correlations
    Sahoo, Trilochan; Bacino, Carlos A; German, Jennifer R; Shaw, Chad A; Bird, Lynne M; Kimonis, Virginia; Anselm, Irinia; Waisbren, Susan; Beaudet, Arthur L; Peters, Sarika U; 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; 2Department of Pediatrics and Rady Children's Hospital, University of California, San Diego, CA, USA; 3Department of Pediatrics, Psychiatry and Neurology, Harvard Medical School, Boston, MA, USA; 3Department of Pediatrics, Psychiatry and Neurology, Harvard Medical School, Boston, MA, USA; 3Department of Pediatrics, Psychiatry and Neurology, Harvard Medical School, Boston, MA, USA; 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; (European journal of human genetics : EJHG, v.15, 2007, pp.943-949)
  • 107
    Gender-dependent differences in biological rhythms of mice
    Weigl, Y; Peleg, L; Dotan, A; Ashkenazi, I.E; ; (Life sciences, v.75, 2004, pp.857-868)
  • 108
    Multifactor dimensionality reduction reveals gene&#x2013;gene interactions associated with multiple sclerosis susceptibility in African Americans
    Brassat, D; Motsinger, A A; Caillier, S J; Erlich, H A; Walker, K; Steiner, L L; Cree, B A C; Barcellos, L F; Pericak-Vance, M A; Schmidt, S; Gregory, S; Hauser, S L; Haines, J L; Oksenberg, J R; Ritchie, M D; 1Department of Neurology and Center for Human Genetics, School of Medicine, University of California at San Francisco, San Francisco, CA, USA; 2Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA; 1Department of Neurology and Center for Human Genetics, School of Medicine, University of California at San Francisco, San Francisco, CA, USA; 3Department of Human Genetics, Roche Molecular Systems, Alameda, CA, USA; 3Department of Human Genetics, Roche Molecular Systems, Alameda, CA, USA; 3Department of Human Genetics, Roche Molecular Systems, Alameda, CA, USA; 1Department of Neurology and Center for Human Genetics, School of Medicine, University of California at San Francisco, San Francisco, CA, USA; 4Division of Epidemiology, School of Public Health, UC Berkeley, Berkeley, CA, USA; 5Center for Human Genetics, Duke University Medical Center, Durham, NC, USA; 5Center for Human Genetics, Duke University Medical Center, Durham, NC, USA; 5Cente; (Genes and immunity, v.7, 2006, pp.310-315)
  • 109
    Function of CBF<B> <I>&beta;</I> </B>/Bro proteins
    Adya, N; Castilla, L.H; Liu, P.P; ; (Seminars in cell & developmental biology, v.11, 2000, pp.361-368)
  • 110
    Dependable and Efficient Clinical Utility of Target Capture-Based Deep Sequencing in Molecular Diagnosis of Retinitis Pigmentosa
    Wang, Jing; Zhang, Victor W.; Feng, Yanming; Tian, Xia; Li, Fang-Yuan; Truong, Cavatina; Wang, Guoli; Chiang, Pei-Wen; Lewis, Richard A.; Wong, Lee-Jun C.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States; Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States 3Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, Uni; (Investigative ophthalmology & visual science, v.55, 2014, pp.6213)

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