Sage Journals: Discover world-class research

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Announcement

First published 2006

Occurrence of Full-Thickness Macular Hole Complicating Stargardt Disease with ABCR Mutation

A. Sodi, A. Bini, I. Passerini [...]

European Journal of Ophthalmology

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Research article

First published 2008-08

Analysis of Near Full-Length Genomic Sequences of Drug-Resistant HIV-1 Spreading among Therapy-Naïve Individuals in Nagoya,Japan: Amino Acid Mutations Associated with Viral Replication Activity

Shiro Ibe, Urara Shigemi, Kaori Sawaki [...]

AIDS Research and Human Retroviruses

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Case report

First published 2022-5

Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation

Javier Arredondo Montero, Mónica Bronte Anaut, Yerani Ruiz de Azúa [...]

Pediatric and Developmental Pathology

Free access

Brief report

First published 1999-7

Detection of P53 Gene Mutations in its Full Translational Sequence by Cleavase Fragment Length Polymorphism Analysis

Yasuyuki Okamoto, Hiroshi Nakano

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2017-3

Validation of Polymerase Chain Reaction–Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients

Madhumita Roy Chowdhury, Sandeepa Chauhan, Anjali Dabral [...]

Journal of Child Neurology

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Other

First published 2008-12

Prevalence of the Fragile X Syndrome Among Estonian Mentally Retarded and the Entire Children's Population

Helen Puusepp, Tiina Kahre, Hiljar Sibul [...]

Journal of Child Neurology

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Other

First published 2010-9

Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)

Richard S. Finkel

Journal of Child Neurology

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Research article

First published 2012-03

Evaluation of the Human Fragile X Mental Retardation 1 Polymerase Chain Reaction Reagents to Amplify the FMR1 Gene: Testing in a Clinical Diagnostic Laboratory

Fatimah A. Nahhas, Thomas J. Monroe, Thomas W. Prior [...]

Genetic Testing and Molecular Biomarkers

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Brief report

First published 2000-09

The Risk of Fragile X Premutation Expansion Is Lower in Carriers Detected by General Prenatal Screening Than in Carriers from Known Fragile X Families

Eli Geva, Yuval Yaron, Ruth Shomrat [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2024-01

RAS Mutations Predict Recurrence-Free Survival and Recurrence Patterns in Colon Cancer: A Unicenter Study in Morocco

Fatima El Agy, Sanae El Bardai, Sara Boukansa [...]

Cancer Control

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