Sage Journals: Discover world-class research

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Research article

First published 2012-06

Identification of Novel Mutations in LMNA Associated with Familial Forms of Dilated Cardiomyopathy

Birgit Stallmeyer, Matthias Koopmann, Eric Schulze-Bahr

Genetic Testing and Molecular Biomarkers

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Research article

First published 2015-1

Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome

Taner Sezer, Figen Ozçay, Oya Balci [...]

Journal of Child Neurology

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Research article

First published 2017

Novel COL1A1 Mutation c.3290G>T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus

Laura Tanner, Paula Vainio, Minna Sandell [...]

Pediatric and Developmental Pathology

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Other

First published 2002-11

Autosomal-dominant Hypoplastic Form of Amelogenesis Imperfecta Caused by an Enamelin Gene Mutation at the Exon-Intron Boundary

M. Kida, T. Ariga, T. Shirakawa [...]

Journal of Dental Research

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Case report

First published 2011-02

Multiple Endocrine Neoplasia Type 2B with a RET Proto-Oncogene A883F Mutation Displays a More Indolent Form of Medullary Thyroid Carcinoma Compared with a RET M918T Mutation

Sina Jasim, Anita K. Ying, Steven G. Waguespack [...]

Thyroid®

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Other

First published 2012-2

Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation

Sing-Chung Li, Wuh-Liang Hwu, Ju-Li Lin [...]

Journal of Child Neurology

Free access

Research article

First published 1995-9

A Frame-Shift Mutation of the Androgen Receptor Gene in a Patient with Receptor-Negative Complete Testicular Feminization: Comparison with a Single Base Substitution in a Receptor-Reduced Incomplete Form

Atsushi Imai, Tsukasa Ohno, Koji Iida [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Free access

Rapid communication

First published 2004-9

Rapid and Simple Mutation Screening of G M1 Gangliosidosis in Shiba Dogs by Direct Amplification of Deoxyribonucleic Acid from Various Forms of Canine Whole-Blood Specimens

Osamu Yamato, Eun-Og Jo, Toru Shoda [...]

Journal of Veterinary Diagnostic Investigation

Open access

Letter

First published 2023-6

Heterozygous E148Q Mutation in an Indian Family with a Milder form of Familial Mediterranean Fever

Mansoor C. Abdulla

Indian Journal of Rheumatology

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Research article

First published 2001-09

Spectrum of Mutations in the CFTR Gene of Patients with Classical and Atypical Forms of Cystic Fibrosis from Southwestern Sweden: Identification of 12 Novel Mutations

Birgitta Strandvik, Eva Björck, Marie Fallström [...]

Genetic Testing and Molecular Biomarkers

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