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Genetic testing

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

Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1)

Philipp Harter, Jan Hauke, [ ... ], Rita Schmutzler

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

Lynn F. Cherkas, Juliette M. Harris, [ ... ], Barbara Prainsack

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

Laura Ortega-Moreno, Beatriz G. Giráldez, [ ... ], Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI)

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

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

Clinicians’ attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease

Stéphanie De Rechter, Jonathan Kringen, [ ... ], Djalila Mekahli

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

Yrjänä Hynninen, Miika Linna, Eeva Vilkkumaa

BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

Bárbara Alemar, Cleandra Gregório, [ ... ], Patricia Ashton-Prolla

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

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

Genetic Testing for TMEM154 Mutations Associated with Lentivirus Susceptibility in Sheep

Michael P. Heaton, Theodore S. Kalbfleisch, [ ... ], the International Sheep Genomics Consortium

Direct-to-consumer genetic testing: Prospective users’ attitudes toward information about ancestry and biological relationships

James W. Hazel, Catherine Hammack-Aviran, [ ... ], Ellen Wright Clayton

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

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