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Genetic testing

The impact of uncertainty on disclosure of prenatal exome sequencing results: A vignette study among medical students

Jasmijn E. Klapwijk, Vyne Van der Schoot, [ ... ], Sam R. Riedijk

WGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand

Worrawit Wanitsuwan, Kanet Kanjanapradit, [ ... ], Sukanya Horpaopan

Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data

Leo Joskowicz, Tim Buchbinder, [ ... ], Jaime Levy

Genetic testing in individuals with extreme HDL-C levels: Diagnostic yield and clinical implications from the Tromsø Study

Åsa Schawlann Ølnes, Marianne Teigen, [ ... ], Katrine Bjune

Prevalence and genotypic distribution of non-epidermolytic ichthyosis in Italian Golden Retrievers

Maria Grazia De Iorio, Michele Polli, [ ... ], Giulietta Minozzi

The socioeconomic impact of inherited retinal dystrophies (IRDs) in Belgium: A cost-of-illness study

Ine Vandersmissen, Janice Geers, [ ... ], Bart P. Leroy

To test or not to test? Study protocol for a best-worst scaling to understand decision-making and preferences for genetic testing in moderate-risk individuals

Carina Oedingen, Nicolle Hua, [ ... ], Deborah A. Marshall

Diagnostic yield of exome sequencing in nonobstructive azoospermia (NOA): A systematic review and meta-analysis

Fan Zhou, Yaqian Li, Jiani Zhang, Xiaodong Wang

Utilization of genomic services among physicians in Kenya

Hillary Sigilai, Elijah Ogola, Syokau Ilovi

Mapping the state-of-the-art of the barriers for personalized preventive approaches worldwide: A scoping review of reviews

Nicolò Scarsi, Abdelrahman Taha, [ ... ], Stefania Boccia

Optimizing gene prioritization for clinical diagnosis of metabolic genetic disorders

Beatriz Helena Dantas Rodrigues de Albuquerque, Daniel Carlos Ferreira Lanza

Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes

Gabriela Pacheco, Maria G. Bastida, [ ... ], Ana Tangari-Saredo

Hematological analysis of alpha-thalassemia: A single-center, retrospective clinical study

Lin Zheng, Nuolan Yin, [ ... ], Liangpu Xu

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