Sage Journals: Discover world-class research

Open access

Research article

First published 2016

Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis

Miyono M. Hendrix, Stephanie L. Foster, Suzanne K. Cordovado

Journal of Inborn Errors of Metabolism and Screening

Free access

Research article

First published 2014-2

Genetic Screening for the LRRK2 R1441C and G2019S Mutations in Parkinsonian Patients from Campania

Anna De Rosa, Giuseppe De Michele, Anna Guacci [...]

Journal of Parkinson’s Disease

Retricted access

Research article

First published 2012-10

Mutation Screening of the APOA5 Gene in Subjects with Coronary Artery Disease

Muhidien Soufi, Alexander M. Sattler, Bilgen Kurt [...]

Journal of Investigative Medicine

Open access

Research article

First published 2018-4

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening

Andraz Smon, Urh Groselj, Marusa Debeljak [...]

Journal of International Medical Research

Free access

Rapid communication

First published 2006-1

Efficient Screening of the Cystinuria-Related C663T Slc3a1 Nonsense Mutation in Newfoundland Dogs by Denaturing High-Performance Liquid Chromatography

Augusto José Ferreira Matos, Cláudia Mascarenhas, Paula Magalhães [...]

Journal of Veterinary Diagnostic Investigation

Free access

First published 1999-06

Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis

Journal of Medical Screening

Open access

Research article

First published 2022

Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening

Wesley Schaal, Adam Ameur, Ulla Olsson-Strömberg [...]

Cancer Informatics

Retricted access

Research article

First published 1996-04

RET Mutation Screening in MEN2 Patients and Discovery of a Novel Mutation in a Sporadic Medullary Thyroid Carcinoma

Sissy M. Jhiang, Linda Fithian, Christopher M. Weghorst [...]

Thyroid®

Retricted access

Research article

First published 2000-06

Large-Scale Screening for HFE Mutations: Methodology and Cost

Ernest Beutler, Terri Gelbart

Genetic Testing and Molecular Biomarkers

Free access

Research article

First published 2017-6

High-Throughput Screening for Readthrough Modulators of CFTR PTC Mutations

Feng Liang, Haibo Shang, Nikole J. Jordan [...]

Journal of Laboratory Automation

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