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Genetic testing

Signification of distal urinary acidification defects in hypocitraturic patients

Valentina Forni Ogna, Anne Blanchard, [ ... ], Marie Courbebaisse

Open sharing of genomic data: Who does it and why?

Tobias Haeusermann, Bastian Greshake, [ ... ], Effy Vayena

Robustness of meta-analyses in finding gene × environment interactions

Gang Shi, Arye Nehorai

Young Adults’ Belief in Genetic Determinism, and Knowledge and Attitudes towards Modern Genetics and Genomics: The PUGGS Questionnaire

Rebecca Bruu Carver, Jérémy Castéra, [ ... ], Charbel N. El-Hani

Clinical Utility of a Comprehensive, Whole Genome CMA Testing Platform in Pediatrics: A Prospective Randomized Controlled Trial of Simulated Patients in Physician Practices

John Peabody, Megan Martin, [ ... ], Trever Burgon

Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing

Di Feng, Julia M. Steinke, [ ... ], Martin R. Pollak

Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System

Moritoshi Kinoshita, Eiji Higashihara, [ ... ], Kikuo Nutahara

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients

Kentaro Mori, Hideaki Moteki, [ ... ], Shin-ichi Usami

Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan

Ying-Erh Chen, Sung-Shuo Kao, Ren-Hua Chung

Quality of Life and Psychological State in Chinese Breast Cancer Patients Who Received BRCA1/2 Genetic Testing

Jiajia Qiu, Jiaqin Guan, [ ... ], Zhen Hu

Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders

Juan Jiménez-Jáimez, Julián Palomino Doza, [ ... ], Luis Tercedor

Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions

France Légaré, Hubert Robitaille, [ ... ], François Rousseau

Factors Motivating Individuals to Consider Genetic Testing for Type 2 Diabetes Risk Prediction

Jennifer Wessel, Jyoti Gupta, Mary de Groot

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