Sage Journals: Discover world-class research

Retricted access

Brief report

First published 2001-12

Genetic Analysis of Brugada Syndrome in Israel: Two Novel Mutations and Possible Genetic Heterogeneity

Etgar Levy-Nissenbaum, Michael Eldar, Qing Wang [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2012-5-4

Clinical,Neuropathological,and Genetic Characteristics of the Novel IVS9+1delG GRN Mutation in a Patient with Frontotemporal Dementia

Ricardo Taipa, Assunção Tuna, Joana Damásio [...]

Journal of Alzheimer’s Disease

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Research article

First published 2018-9

Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes

Despina Apostolopoulou, Olga S. Kaxira, Angeliki Hatzaki [...]

The Cleft Palate Craniofacial Journal

Open access

Research article

First published 2020

Combining Genetic Mutation and Expression Profiles Identifies Novel Prognostic Biomarkers of Lung Adenocarcinoma

Yun Liu, Fu Liu, Xintong Hu [...]

Clinical Medicine Insights: Oncology

Open access

Case report

First published 2015

Genetically Targeted Dipeptidyl Peptidase-4 Inhibitor Use in a Patient with a Novel Mutation of MODY type 4

Christian Mangrum, Eric Rush, Vijay Shivaswamy

Clinical Medicine Insights: Endocrinology and Diabetes

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Other

First published 2006-12

A Novel Missense Mutation in Van der Woude Syndrome: Usefulness of Fingernail DNA for Genetic Analysis

N. Matsuzawa, K. Shimozato, N. Natsume [...]

Journal of Dental Research

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Research article

First published 2003-03

Utility of Genetic Screening in Hypertrophic Cardiomyopathy: Prevalence and Significance of Novel and Double (Homozygous and Heterozygous) β -Myosin Mutations

Saidi A. Mohiddin, David A. Begley, Elisha McLam [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2014-2

Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus

Hadassa Goldberg-Stern, Sharon Aharoni, Zaid Afawi [...]

Journal of Child Neurology

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Case report

First published 2018-1

Novel ABCA4 mutation leads to loss of a conserved C-terminal motif: implications for predicting pathogenicity based on genetic testing

Nutsuchar Wangtiraumnuay, Jenina Capasso, Mai Tsukikawa [...]

European Journal of Ophthalmology

Open access

Research article

First published 2025

Clinical and Genetic Characterization of Factor XI Deficiency in Jordan: Identification of a Novel Splice-Site Mutation Associated with Severe Deficiency

Feras Al-Fararjeh, Sally Al-Aqrabwi, Fathy Al-Nazer

Clinical and Applied Thrombosis/Hemostasis

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