Sage Journals: Discover world-class research

Retricted access

Research article

First published 2004-06

Characterization of Two Novel BRCA1 Germ-Line Mutations Involving Splice Donor Sites

M.S. Brose, P. Volpe, K. Paul [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2012-07

A Novel Splice Site and Two Known Mutations of Androgen Receptor Gene in Sex-Reversed XY Phenotype

Vidya Rendheer Vasu, Balachandran Saranya, Meena Jayashankar [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2004-12

Identification of a Novel EYA1 Splice-Site Mutation in a Danish Branchio-Oto-Renal Syndrome Family

Ann Marie Henriksen, Zeynep Tümer, Niels Tommerup [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Case report

First published 2012-1

Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5′ Splice Site Mutation (1084+1G>A): Case Report

Ilana Traynis, Jonathan A. Bernstein, Phyllis Gardner [...]

The Cleft Palate Craniofacial Journal

Retricted access

Research article

First published 2018-12

Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree

Zhuang-Li Tang, Tian Wang, Tong Xiao [...]

Genetic Testing and Molecular Biomarkers

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

Retricted access

Research article

First published 2005

Novel mutations introduced at the β-site of amyloid β protein precursor enhance the production of amyloid β peptide by BACE1 in vitro and in cells

Xiao-Ping Shi, Katherine Tugusheva, James E. Bruce [...]

Journal of Alzheimer’s Disease

Retricted access

Research article

First published 2016-7-13

A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy

Celeste Sassi, Rosa Capozzo, Raphael Gibbs [...]

Journal of Alzheimer’s Disease

Retricted access

Research article

First published 2021-05

Mutations at Novel Sites in pmrA/B and lpxA/D Genes and Absence of Reduced Fitness in Colistin-Resistant Acinetobacter baumannii from a Tertiary Care Hospital,India

Swati Sharma, Tuhina Banerjee, Ghanshyam Yadav [...]

Microbial Drug Resistance

Open access

Case report

First published 2024-3

A case of mild partial androgen insensitivity syndrome in a juvenile boy

Fen Wang, Shiying Shao, Wentao He [...]

Journal of International Medical Research

Search results