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Genetic testing

Serum Bilirubin Concentration in Healthy Adult North-Europeans Is Strictly Controlled by the UGT1A1 TA-Repeat Variants

Marianne K. Kringen, Armin P. Piehler, Runa M. Grimholt, Mimi S. Opdal, Kari Bente F. Haug, Petter Urdal

published 28 Feb 2014

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In Their Own Words: Treating Very Young BRCA1/2 Mutation-Positive Women with Care and Caution

Lindsey M. Hoskins, Allison Werner-Lin, Mark H. Greene

published 28 Feb 2014

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Identification of Candidate Children for Maturity-Onset Diabetes of the Young Type 2 (MODY2) Gene Testing: A Seven-Item Clinical Flowchart (7-iF)

Michele Pinelli, Fabio Acquaviva, Fabrizio Barbetti, Elisabetta Caredda, Sergio Cocozza, Maurizio Delvecchio, Enza Mozzillo, Daniele Pirozzi, Francesco Prisco, Ivana Rabbone, Lucia Sacchetti, Nadia Tinto, Sonia Toni, Stefano Zucchini, Dario Iafusco, Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED)

published 11 Nov 2013

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Use of HbA1c in the Identification of Patients with Hyperglycaemia Caused by a Glucokinase Mutation: Observational Case Control Studies

Anna M. Steele, Kirsty J. Wensley, Sian Ellard, Rinki Murphy, Maggie Shepherd, Kevin Colclough, Andrew T. Hattersley, Beverley M. Shields

published 14 Jun 2013

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Genetic Testing for TMEM154 Mutations Associated with Lentivirus Susceptibility in Sheep

Michael P. Heaton, Theodore S. Kalbfleisch, Dustin T. Petrik, Barry Simpson, James W. Kijas, Michael L. Clawson, Carol G. Chitko-McKown, Gregory P. Harhay, Kreg A. Leymaster, the International Sheep Genomics Consortium

published 11 Feb 2013

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Comparing Alternative Methods for Holding Virgin Honey Bee Queens for One Week in Mailing Cages before Mating

Gianluigi Bigio, Christoph Grüter, Francis L. W. Ratnieks

published 16 Nov 2012

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Impact of Genetic Notification on Smoking Cessation: Systematic Review and Pooled-Analysis

Sylviane de Viron, Johan Van der Heyden, Elena Ambrosino, Marc Arbyn, Angela Brand, Herman Van Oyen

published 11 Jul 2012

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Exome Sequencing and Genetic Testing for MODY

Stefan Johansson, Henrik Irgens, Kishan K. Chudasama, Janne Molnes, Jan Aerts, Francisco S. Roque, Inge Jonassen, Shawn Levy, Kari Lima, Per M. Knappskog, Graeme I. Bell, Anders Molven, Pål R. Njølstad

published 25 May 2012

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The p.V37I Exclusive Genotype Of GJB2: A Genetic Risk-Indicator of Postnatal Permanent Childhood Hearing Impairment

Lei Li, Jingrong Lu, Zheng Tao, Qi Huang, Yongchuan Chai, Xiaohua Li, Zhiwu Huang, Yun Li, Mingliang Xiang, Jun Yang, Guoyin Yao, Yu Wang, Tao Yang, Hao Wu

published 04 May 2012

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Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers

Kai Hang Yiu, Douwe E. Atsma, Victoria Delgado, Arnold C. T. Ng, Tomasz G. Witkowski, See Hooi Ewe, Dominique Auger, Eduard R. Holman, Anneke M. van Mil, Martijn H. Breuning, Hung Fat Tse, Jeroen J. Bax, Martin J. Schalij, Nina Ajmone Marsan

published 04 May 2012

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Characterization of a Large Group of Individuals with Huntington Disease and Their Relatives Enrolled in the COHORT Study

E. Ray Dorsey, the Huntington Study Group COHORT Investigators

published 16 Feb 2012

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A Survey of UK Public Interest in Internet-Based Personal Genome Testing

Lynn F. Cherkas, Juliette M. Harris, Elana Levinson, Tim D. Spector, Barbara Prainsack

published 19 Oct 2010

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