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Genetic testing

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study

Richard W. D. Welford, Marco Garzotti, [ ... ], Peter Groenen

Workload measurement for molecular genetics laboratory: A survey study

Enrico Tagliafico, Isabella Bernardis, [ ... ], on behalf of the Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU

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

Clinical reassessment of human embryo ploidy status between cleavage and blastocyst stage by Next Generation Sequencing

Alberto Liñán, Barbara Lawrenz, [ ... ], Human M. Fatemi

Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards’ Responses

Bärbel Kästner, Simone Behre, [ ... ], Markus Ries

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

Erica Pitini, Elvira D’Andrea, [ ... ], Paolo Villari

Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms

Anne T. Berg, Samya Chakravorty, [ ... ], Madhuri Hegde

Attitudes towards genetic testing: The role of genetic literacy, motivated cognition, and socio-demographic characteristics

Maxim Likhanov, Ilya Zakharov, [ ... ], Robert Chapman

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

Kai Hang Yiu, Douwe E. Atsma, [ ... ], Nina Ajmone Marsan

Factors influencing precision medicine knowledge and attitudes

Rohini Chakravarthy, Sarah C. Stallings, [ ... ], Consuelo H. Wilkins

Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis

Renata Lazari Sandoval, Ana Carolina Rathsam Leite, [ ... ], Maria Isabel Achatz

Health and kinship matter: Learning about direct-to-consumer genetic testing user experiences via online discussions

Zhijun Yin, Lijun Song, Ellen W. Clayton, Bradley A. Malin

Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand

Luciana Marcondes, Jackie Crawford, [ ... ], on behalf of the Cardiac Inherited Disease Group New Zealand

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