Search results: Sage Journals

Restricted accessCase reportFirst published January, 2020

Treatment exceeds expectations in a patient with non-small cell lung adenocarcinoma with an EGFR exon 20 mutation

Agnes McAuliffe, Poorva Bindal, Meredith Haley [...]

Journal of Oncology Pharmacy Practice

Open accessReview articleFirst published 2023

Advances in the management of non-small-cell lung cancer harbouring EGFR exon 20 insertion mutations

Jia Li Low, Sun Min Lim, Jii Bum Lee [...]

Therapeutic Advances in Medical Oncology

Free accessResearch articleFirst published January, 2007

Highly Conserved Sequence of Exon 15 BRAF Gene and KRAS Codon 12 Mutation among Greek Patients with Colorectal Cancer

E.K. Symvoulakis, A. Zaravinos, D. Panutsopulos [...]

The International Journal of Biological Markers

Restricted accessResearch articleFirst published 2009

Exonic Point Mutations of Human Tau Enhance its Toxicity and Cause Characteristic Changes in Neuronal Morphology,Tau Distribution and Tau Phosphorylation in the Lamprey Cellular Model of Tauopathy

Sangmook Lee, Cheolwha Jung, Gloria Lee [...]

Journal of Alzheimer’s Disease

Open accessCase reportFirst published 2019

A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report

Feras M Ghazawi, Etienne Saint-Cyr Proulx, Fatemeh Jafarian

Sage Open Medical Case Reports

Free accessResearch articleFirst published September, 2010

Mutation Analysis of Braf Exon 15 and Kras Codons 12 and 13 in Moroccan Patients with Colorectal Cancer

Bahia Bennani, Sophie Gilles, Frederic Fina [...]

The International Journal of Biological Markers

Restricted accessResearch articleFirst published June, 2006

A Missense Mutation in Exon 13 in BRCA2,c.7235G>A,Results in Skipping of Exon 13

Mads Thomassen, Torben A. Kruse, Peter K.A. Jensen [...]

Genetic Testing and Molecular Biomarkers

Restricted accessResearch articleFirst published October, 1996

Thyroglobulin Exon 10 Gene Point Mutation in a Patient with Endemic Goiter

Cecilia Pérez-Centeno, Rogelio González-Sarmiento, María T. Mories [...]

Thyroid®

Restricted accessResearch articleFirst published July, 2013

Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy

John Rendu, Julie Brocard, Eric Denarier [...]

Human Gene Therapy

Restricted accessResearch articleFirst published September, 1999

Mutations in Exon 3 of the PAH Gene Causing Mild Hyperphenylalaninemia

Cezary Zekanowski, Maria Nowacka, Maria Gizewska [...]

Genetic Testing and Molecular Biomarkers

Restricted accessCase reportFirst published January, 2020

Treatment exceeds expectations in a patient with non-small cell lung adenocarcinoma with an EGFR exon 20 mutation

Agnes McAuliffe, Poorva Bindal, Meredith Haley [...]

Journal of Oncology Pharmacy Practice

Open accessReview articleFirst published 2023

Advances in the management of non-small-cell lung cancer harbouring EGFR exon 20 insertion mutations

Jia Li Low, Sun Min Lim, Jii Bum Lee [...]

Therapeutic Advances in Medical Oncology

Free accessResearch articleFirst published January, 2007

Highly Conserved Sequence of Exon 15 BRAF Gene and KRAS Codon 12 Mutation among Greek Patients with Colorectal Cancer

E.K. Symvoulakis, A. Zaravinos, D. Panutsopulos [...]

The International Journal of Biological Markers

Restricted accessResearch articleFirst published 2009

Exonic Point Mutations of Human Tau Enhance its Toxicity and Cause Characteristic Changes in Neuronal Morphology,Tau Distribution and Tau Phosphorylation in the Lamprey Cellular Model of Tauopathy

Sangmook Lee, Cheolwha Jung, Gloria Lee [...]

Journal of Alzheimer’s Disease

Open accessCase reportFirst published 2019

A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report

Feras M Ghazawi, Etienne Saint-Cyr Proulx, Fatemeh Jafarian

Sage Open Medical Case Reports

Free accessResearch articleFirst published September, 2010

Mutation Analysis of Braf Exon 15 and Kras Codons 12 and 13 in Moroccan Patients with Colorectal Cancer

Bahia Bennani, Sophie Gilles, Frederic Fina [...]

The International Journal of Biological Markers

Restricted accessResearch articleFirst published June, 2006

A Missense Mutation in Exon 13 in BRCA2,c.7235G>A,Results in Skipping of Exon 13

Mads Thomassen, Torben A. Kruse, Peter K.A. Jensen [...]

Genetic Testing and Molecular Biomarkers

Restricted accessResearch articleFirst published October, 1996

Thyroglobulin Exon 10 Gene Point Mutation in a Patient with Endemic Goiter

Cecilia Pérez-Centeno, Rogelio González-Sarmiento, María T. Mories [...]

Thyroid®

Restricted accessResearch articleFirst published July, 2013

Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy

John Rendu, Julie Brocard, Eric Denarier [...]

Human Gene Therapy

Restricted accessResearch articleFirst published September, 1999

Mutations in Exon 3 of the PAH Gene Causing Mild Hyperphenylalaninemia

Cezary Zekanowski, Maria Nowacka, Maria Gizewska [...]

Genetic Testing and Molecular Biomarkers