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1
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy
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Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy

Isabella Scionti Francesca Greco; Giulia Ricci; Monica Govi; Patrícia Arashiro; Liliana Vercelli; Angela Berardinelli; Corrado Angelini; Giovanni Antonini; Michelangelo Cao; Antonio Di Muzio; Maurizio Moggio; Lucia Morandi; Enzo Ricci; Carmelo Rodolico; Lucia Ruggiero; Lucio Santoro; Gabriele Siciliano; Giuliano Tomelleri; Carlo Pietro Trevisan; Giuliana Galluzzi; Woodring Wright; Mayana Zatz; Rosella Tupler

American Journal of Human Genetics Cambridge v. 90, n. 4, p. 628-635, Apr. 2012

Cambridge 2012

Item não circula. Consulte sua biblioteca.(Acessar)

2
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy
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Artigo 		Adicionar ao Meu Espaço

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy

Isabella Scionti Francesca Greco; Giulia Ricci; Monica Govi; Patrícia Arashiro; Liliana Vercelli; Angela Berardinelli; Corrado Angelini; Giovanni Antonini; Michelangelo Cao; Antonio Di Muzio; Maurizio Moggio; Lucia Morandi; Enzo Ricci; Carmelo Rodolico; Lucia Ruggiero; Lucio Santoro; Gabriele Siciliano; Giuliano Tomelleri; Carlo Pietro Trevisan; Giuliana Galluzzi; Woodring Wright; Mayana Zatz; Rosella Tupler

American Journal of Human Genetics Cambridge v. 90, n. 4, p. 628-635, Apr. 2012

Cambridge 2012

Item não circula. Consulte sua biblioteca.(Acessar)

3
Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues
Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues
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Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues

Liu, Xuanyao ; Finucane, Hilary K. ; Gusev, Alexander ; Bhatia, Gaurav ; Gazal, Steven ; O’Connor, Luke ; Bulik-Sullivan, Brendan ; Wright, Fred A. ; Sullivan, Patrick F. ; Neale, Benjamin M. ; Price, Alkes L.

American journal of human genetics, 2017-04, Vol.100 (4), p.605-616 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans
Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans
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Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Burgess, Rosemary ; Millar, Ian D. ; Leroy, Bart P. ; Urquhart, Jill E. ; Fearon, Ian M. ; De Baere, Elfrida ; Brown, Peter D. ; Robson, Anthony G. ; Wright, Genevieve A. ; Kestelyn, Philippe ; Holder, Graham E. ; Webster, Andrew R. ; Manson, Forbes D.C. ; Black, Graeme C.M.

American journal of human genetics, 2008-01, Vol.82 (1), p.19-31 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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5
Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans
Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans
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Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

Li, Zheng ; Sergouniotis, Panagiotis I. ; Michaelides, Michel ; Mackay, Donna S. ; Wright, Genevieve A. ; Devery, Sophie ; Moore, Anthony T. ; Holder, Graham E. ; Robson, Anthony G. ; Webster, Andrew R.

American journal of human genetics, 2009-11, Vol.85 (5), p.711-719 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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6
Estimating Odds Ratios in Genome Scans: An Approximate Conditional Likelihood Approach
Estimating Odds Ratios in Genome Scans: An Approximate Conditional Likelihood Approach
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Estimating Odds Ratios in Genome Scans: An Approximate Conditional Likelihood Approach

Ghosh, Arpita ; Zou, Fei ; Wright, Fred A.

American journal of human genetics, 2008-05, Vol.82 (5), p.1064-1074 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
Pooled Analysis of Loss of Heterozygosity in Breast Cancer: a Genome Scan Provides Comparative Evidence for Multiple Tumor Suppressors and Identifies Novel Candidate Regions
Pooled Analysis of Loss of Heterozygosity in Breast Cancer: a Genome Scan Provides Comparative Evidence for Multiple Tumor Suppressors and Identifies Novel Candidate Regions
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Pooled Analysis of Loss of Heterozygosity in Breast Cancer: a Genome Scan Provides Comparative Evidence for Multiple Tumor Suppressors and Identifies Novel Candidate Regions

Miller, Brian J. ; Wang, Daolong ; Krahe, Ralf ; Wright, Fred A.

American journal of human genetics, 2003-10, Vol.73 (4), p.748-767 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
Gene Expression in Transformed Lymphocytes Reveals Variation in Endomembrane and HLA Pathways Modifying Cystic Fibrosis Pulmonary Phenotypes
Gene Expression in Transformed Lymphocytes Reveals Variation in Endomembrane and HLA Pathways Modifying Cystic Fibrosis Pulmonary Phenotypes
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Gene Expression in Transformed Lymphocytes Reveals Variation in Endomembrane and HLA Pathways Modifying Cystic Fibrosis Pulmonary Phenotypes

O’Neal, Wanda K. ; Gallins, Paul ; Pace, Rhonda G. ; Dang, Hong ; Wolf, Whitney E. ; Jones, Lisa C. ; Guo, XueLiang ; Zhou, Yi-Hui ; Madar, Vered ; Huang, Jinyan ; Liang, Liming ; Moffatt, Miriam F. ; Cutting, Garry R. ; Drumm, Mitchell L. ; Rommens, Johanna M. ; Strug, Lisa J. ; Sun, Wei ; Stonebraker, Jaclyn R. ; Wright, Fred A. ; Knowles, Michael R.

American journal of human genetics, 2015-02, Vol.96 (2), p.318-328 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Comment on a Simple and Improved Correction for Population Stratification
Comment on a Simple and Improved Correction for Population Stratification
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Comment on a Simple and Improved Correction for Population Stratification

Lee, Seunggeun ; Sullivan, Patrick F. ; Zou, Fei ; Wright, Fred A.

American journal of human genetics, 2008-02, Vol.82 (2), p.524-526 [Periódico revisado por pares]

United States: Elsevier Inc

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10
MagicalRsq: Machine-learning-based genotype imputation quality calibration
MagicalRsq: Machine-learning-based genotype imputation quality calibration
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MagicalRsq: Machine-learning-based genotype imputation quality calibration

Sun, Quan ; Yang, Yingxi ; Rosen, Jonathan D. ; Jiang, Min-Zhi ; Chen, Jiawen ; Liu, Weifang ; Wen, Jia ; Raffield, Laura M. ; Pace, Rhonda G. ; Zhou, Yi-Hui ; Wright, Fred A. ; Blackman, Scott M. ; Bamshad, Michael J. ; Gibson, Ronald L. ; Cutting, Garry R. ; Knowles, Michael R. ; Schrider, Daniel R. ; Fuchsberger, Christian ; Li, Yun

American journal of human genetics, 2022-11, Vol.109 (11), p.1986-1997 [Periódico revisado por pares]

United States: Elsevier Inc

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Deste Autor:

  1. Ricci, E
  2. Trevisan, C
  3. Greco, F
  4. Berardinelli, A
  5. Angelini, C

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Male

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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