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Genetic testing

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

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

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

Thomas M. Roston, Omid Haji-Ghassemi, [ ... ], Shubhayan Sanatani

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

Lei Li, Jingrong Lu, [ ... ], Hao Wu

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

Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4

Ignacio Hernandez-Gonzalez, Jair Tenorio, [ ... ], Pilar Escribano-Subias

A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer

Liu Yang, Guosheng Wang, [ ... ], Shusen Zheng

Association between distress and knowledge among parents of autistic children

Afiqah Yusuf, Iskra Peltekova, [ ... ], Mayada Elsabbagh

An evaluation of genetic causes and environmental risks for bilateral optic atrophy

Andrew T. Chen, Lauren Brady, [ ... ], Mark A. Tarnopolsky

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

Sylviane de Viron, Johan Van der Heyden, [ ... ], Herman Van Oyen

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

Kimberly Gall, Emanuela Izzo, [ ... ], Tero-Pekka Alastalo

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

Daphne Yau, Thomas W. Laver, [ ... ], Sarah E. Flanagan

Economic impact of medical genetic testing on clinical applications in Thailand

Jiraphun Jittikoon, Sermsiri Sangroongruangsri, [ ... ], Usa Chaikledkaew

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

Robert J. H. Miller, Shahriar Heidary, [ ... ], Phillip C. Yang

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