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Genetic testing

Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center

Chonthicha Satirapod, Matchuporn Sukprasert, Bhakbhoom Panthan, Angkana Charoenyingwattana, Pawares Chitayanan, Wasun Chantratita, Wicharn Choktanasiri, Objoon Trachoo, Suradej Hongeng

published 21 Nov 2019

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Association between distress and knowledge among parents of autistic children

Afiqah Yusuf, Iskra Peltekova, Tal Savion-Lemieux, Jennifer Frei, Ruth Bruno, Ridha Joober, Jennifer Howe, Stephen W. Scherer, Mayada Elsabbagh

published 26 Sep 2019

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A proposal of a new evaluation framework towards implementation of genetic tests

Erica Pitini, Elvira D’Andrea, Corrado De Vito, Annalisa Rosso, Brigid Unim, Carolina Marzuillo, Antonio Federici, Emilio Di Maria, Paolo Villari

published 05 Aug 2019

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Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging

Robert J. H. Miller, Shahriar Heidary, Aleksandra Pavlovic, Audrey Schlachter, Rajesh Dash, Dominik Fleischmann, Euan A. Ashley, Matthew T. Wheeler, Phillip C. Yang

published 14 Jun 2019

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Personal genome testing on physicians improves attitudes on pharmacogenomic approaches

Kye Hwa Lee, Byung Joo Min, Ju Han Kim

published 28 Mar 2019

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Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world

Samuel Guan Wei Ow, Pei Yi Ong, Soo-Chin Lee

published 15 Mar 2019

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Genetic risk assessment of thrombophilia in patients with adverse obstetric outcomes

M. Fernández Arias, E. Mazarico, A. Gonzalez, M. Muniesa, C. Molinet, L. Almeida, M. D. Gómez Roig

published 27 Feb 2019

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Value of genetic testing in the prevention of coronary heart disease events

Yrjänä Hynninen, Miika Linna, Eeva Vilkkumaa

published 15 Jan 2019

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Views of ophthalmologists on the genetics of age-related macular degeneration: Results of a qualitative study

Julika Loss, Daniel Müller, Johannes Weigl, Horst Helbig, Caroline Brandl, Iris M. Heid, Robert P. Finger, Bernhard H. F. Weber, Janina Curbach

published 20 Dec 2018

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The magnitude of Yo-Yo test improvements following an aerobic training intervention are associated with total genotype score

C. Pickering, J. Kiely, B. Suraci, D. Collins

published 28 Nov 2018

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Workload measurement for molecular genetics laboratory: A survey study

Enrico Tagliafico, Isabella Bernardis, Marina Grasso, Maria Rosaria D’Apice, Cristina Lapucci, Annalisa Botta, Daniela Francesca Giachino, Maria Marinelli, Paola Primignani, Silvia Russo, Ilaria Sani, Manuela Seia, Sergio Fini, Paola Rimessi, Elena Tenedini, Anna Ravani, Maurizio Genuardi, Alessandra Ferlini, on behalf of the Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU

published 27 Nov 2018

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Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry

Thomas M. Roston, Omid Haji-Ghassemi, Martin J. LaPage, Anjan S. Batra, Yaniv Bar-Cohen, Chris Anderson, Yung R. Lau, Kathleen Maginot, Roman A. Gebauer, Susan P. Etheridge, James E. Potts, Filip Van Petegem, Shubhayan Sanatani

published 07 Nov 2018

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A systematic literature review of individuals’ perspectives on privacy and genetic information in the United States

Ellen W. Clayton, Colin M. Halverson, Nila A. Sathe, Bradley A. Malin

published 31 Oct 2018

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