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Genetic testing

Impact of genomic literacy components on genetic testing decision-making in the general Japanese population in the 20s and 30s

Tomomi Miyoshi, Masaki Watanabe

Serum Bilirubin Concentration in Healthy Adult North-Europeans Is Strictly Controlled by the UGT1A1 TA-Repeat Variants

Marianne K. Kringen, Armin P. Piehler, [ ... ], Petter Urdal

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

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

Genomic information and a person’s right not to know: A closer look at variations in hypothetical informational preferences in a German sample

Laura Flatau, Markus Reitt, [ ... ], Thomas G. Schulze

Identification of Candidate Children for Maturity-Onset Diabetes of the Young Type 2 (MODY2) Gene Testing: A Seven-Item Clinical Flowchart (7-iF)

Michele Pinelli, Fabio Acquaviva, [ ... ], Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED)

Use of HbA1c in the Identification of Patients with Hyperglycaemia Caused by a Glucokinase Mutation: Observational Case Control Studies

Anna M. Steele, Kirsty J. Wensley, [ ... ], Beverley M. Shields

Open Window: When Easily Identifiable Genomes and Traits Are in the Public Domain

Misha Angrist

Exploratory content analysis of direct-to-consumer pet genomics: What is being marketed and what are consumers saying?

Nikki E. Bennett, Silvio Ernesto Mirabal Torres, Peter B. Gray

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

Juha W. Koskenvuo, Inka Saarinen, [ ... ], Tiina Heliö

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss

Tina Likar, Mensuda Hasanhodžić, [ ... ], Karin Writzl

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

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

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

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

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