검색어 : 통합검색[Human molecular genetics 3]
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101
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Oligomerization of human presenilin-1 fragments
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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)
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102
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A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion
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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)
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103
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Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis
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Moloney, DM;
Wall, SA;
Ashworth, GJ;
Oldridge, M;
Glass, IA;
Francomano, CA;
Muenke, M;
Wilkie, AOM;
;
(The Lancet,
v.349,
1997,
pp.1059-1062)
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104
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Aberrant epithelial <i>GREM1</i> expression initiates colonic tumorigenesis from cells outside of the crypt base stem cell niche
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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)
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105
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Inflammatory Disease and Abortive Platelet Shedding Caused by a Mutation in a Pivotal Regulator of Actin Dynamics in the redears Mouse.
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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)
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106
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Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations
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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)
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107
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Gender-dependent differences in biological rhythms of mice
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Weigl, Y;
Peleg, L;
Dotan, A;
Ashkenazi, I.E;
;
(Life sciences,
v.75,
2004,
pp.857-868)
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108
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Multifactor dimensionality reduction reveals gene–gene interactions associated with multiple sclerosis susceptibility in African Americans
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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)
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109
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Function of CBF<B> <I>β</I> </B>/Bro proteins
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Adya, N;
Castilla, L.H;
Liu, P.P;
;
(Seminars in cell & developmental biology,
v.11,
2000,
pp.361-368)
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110
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Dependable and Efficient Clinical Utility of Target Capture-Based Deep Sequencing in Molecular Diagnosis of Retinitis Pigmentosa
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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)