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Genetic testing

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

Maria Carmela Pera, Giorgia Coratti, [ ... ], Eugenio Mercuri

An Alaska Native community’s views on genetic research, testing, and return of results: Results from a public deliberation

Vanessa Y. Hiratsuka, Julie A. Beans, [ ... ], Paul G. Spicer

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

Do genetic ancestry tests increase racial essentialism? Findings from a randomized controlled trial

Wendy D. Roth, Şule Yaylacı, Kaitlyn Jaffe, Lindsey Richardson

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

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

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, [ ... ], Suradej Hongeng

Association between distress and knowledge among parents of autistic children

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

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

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

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

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

Personal genome testing on physicians improves attitudes on pharmacogenomic approaches

Kye Hwa Lee, Byung Joo Min, Ju Han Kim

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

Genetic risk assessment of thrombophilia in patients with adverse obstetric outcomes

M. Fernández Arias, E. Mazarico, [ ... ], M. D. Gómez Roig

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

Yrjänä Hynninen, Miika Linna, Eeva Vilkkumaa

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