Sage Journals: Discover world-class research

Open access

Case report

First published 2021

De Novo Intron 22 Inversion Carrier Detection—The Emerging Value of Genetic Analysis in a Developing Country

Jean F. Kloppers, Jan du Plessis, Walter Janse van Rensburg

Blood & Plasma

Retricted access

Research article

First published 1993-09

Application of Molecular Analysis to Genetic Counseling in the Wiskott–Aldrich Syndrome (WAS)

Luigi D. Notarangelo, Fabio Candotti, Ornella Parolini [...]

DNA and Cell Biology

Retricted access

Research article

First published 2005-09

Cystic Fibrosis Newborn Screening: A Pilot Study to Maximize Carrier Screening

Erin Lagoe, Sandra Labella, Georgianne Arnold [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2020-8

Estimating the age at onset distribution of the asymptomatic stage of a genetic disease based on pedigree data

Marianne A Jonker, Priya Vart, Mar Rodriguez Girondo

Statistical Methods in Medical Research

Open access

Research article

First published 2018-4

Whole-exome sequencing improves genetic testing accuracy in pulmonary artery hypertension

Xiaofang Zeng, Tianyu Lian, Jianhui Lin [...]

Pulmonary Circulation

Free access

Research article

First published 2011-8

The IDDEA project: a strategy for the detection of alpha-1 antitrypsin deficiency in COPD patients in the primary care setting

Jesús Molina, Xavier Flor, Rosa García [...]

Therapeutic Advances in Respiratory Disease

Retricted access

Research article

First published 1998-04

Genetic Counseling by Analysis of Intron 22 Inversions of the Factor VIII Gene

Etsuko Yamazaki, Hiroshi Mohri, Hiroshi Harano [...]

Clinical and Applied Thrombosis/Hemostasis

Retricted access

Research article

First published 2008-06

Identification of Duchenne Muscular Dystrophy Female Carriers by Fluorescence In Situ Hybridization and RT-PCR

Ana Claudia Velázquez-Wong, César Hernández-Huerta, Areli Márquez-Calixto [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Review article

First published 2025

Optimization method of carrier capacity for 3D spherical braiding process

Shiyi Li, Zhuo Meng, Qiyang Li [...]

Proceedings of the Institution of Mechanical Engineers,Part L: Journal of Materials: Design and Applications

Free access

Review article

First published 2023-6

Couple screening for recessively inherited disorders

Silvina Sisterna, Antoni Borrell

Journal of Medical Screening

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