Sage Journals: Discover world-class research

Open access

Research article

First published 2026-1

A novel mutation in exon 18 of FGFR1 causing hypoparathyroidism: A case report

Xueqin Cao, Yuzhu Zhu, Rong Sun [...]

Journal of International Medical Research

Open access

Case report

First published 2023

Identification of a large intra-exonic deletion in BRCA2 exon 18 in a pancreatic ductal adenocarcinoma

Inès Debbabi, Sophie Vacher, Cindy Neuzillet [...]

Therapeutic Advances in Medical Oncology

Retricted access

Research article

First published 2009-06

Oncocytic,focally anaplastic,thyroid cancer responding to erlotinib

Thomas Hogan, Jing Jie Yu, H James Williams [...]

Journal of Oncology Pharmacy Practice

Open access

Research article

First published 2025-03

Minimally Humanized Ezh2 Exon-18 Mouse Cell Lines Validate Preclinical CRISPR/Cas9 Approach to Treat Weaver Syndrome

William T. Gibson, Tess C. Lengyell, Andrea J. Korecki [...]

Human Gene Therapy

Retricted access

Review article

First published 2023-09

Limitations of Dual-Single Guide RNA CRISPR Strategies for the Treatment of Central Nervous System Genetic Disorders

Fábio Duarte, Gabriel Vachey, Nicholas S. Caron [...]

Human Gene Therapy

Free access

Research article

First published 2006-1

RT-PCR Based Mutation Detection of the Inflammatory Molecules Elastase II Gene Encoding Neutrophil Elastase in Cyclic Neutropenia Patients by Capillary Sequencing

G. Ahangari, A. Farhoudi, Z. Chavoshzadeh [...]

European Journal of Inflammation

Open access

Brief report

First published 2024-04-30

Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study

Stefan Nicolau, Jyoti Malhotra, Maryann Kaler [...]

Journal of Neuromuscular Diseases

Retricted access

Other

First published 2010-11

Genotype-Phenotype Correlations in a Group of 15 SCN1A-Mutated Italian Patients with GEFS+ Spectrum (Seizures plus,Classical and Borderline Severe Myoclonic Epilepsy of Infancy)

Francesco Nicita, Alberto Spalice, Laura Papetti [...]

Journal of Child Neurology

Retricted access

Research article

First published 2019-07

MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study

Zeeshan Ansar, Asghar Nasir, Tariq Moatter [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 1996-12

Structure and the Promoter Region of the Mouse Gene Encoding the 67-kD Form of Glutamic Acid Decarboxylase

Gábor Szabó, Zoya Katarova, Előd Körtvély [...]

DNA and Cell Biology

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