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Research article

First published 2010-7

PRPH2 (Peripherin/RDS) Mutations Associated with Different Macular Dystrophies in a Spanish Population: A New Mutation

Rosa M. Coco, Juan J. Tellena, M. Rosa Sanabria [...]

European Journal of Ophthalmology

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Research article

First published 2018-11

New adaption based mutation operator on differential evolution algorithm

Shailendra Pratap Singh

Intelligent Decision Technologies

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Research article

First published 2008-06

Three New BLM Gene Mutations Associated with Bloom Syndrome

Mounira Amor-Guéret, Catherine Dubois-d'Enghien, Anthony Laugé [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2008-05

A New Silent Germline Mutation of the TSH Receptor: Coexpression in a Hyperthyroid Family Member with a Second Activating Somatic Mutation

Hulya Iliksu Gozu, Sandra Mueller, Rifat Bircan [...]

Thyroid®

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Case report

First published 2023-7

A new mutation in the PDE6C gene in achromatopsia

Laura Jiménez-Siles, Francisco Zamorano-Martín, María García-Lorente [...]

European Journal of Ophthalmology

Free access

Research article

First published 2015-4

New Protocol for Detection of Intron 22 Inversion Mutation From Cases With Hemophilia A

Praveen Kumar, Nuzhat Husain, Priyanka Soni [...]

Clinical and Applied Thrombosis/Hemostasis

Free access

Other

First published 2007-8

Progressive Nonfluent Aphasia Associated With a New Mutation V363I in Tau Gene

David G. Munoz, Raquel Ros, Marta Fatas [...]

American Journal of Alzheimer's Disease & Other Dementias®

Open access

Research article

First published 2023

Targeted Gene Panel Sequencing Unveiled New Pathogenic Mutations in Patients With Breast Cancer

Souad Kartti, El Mehdi Bouricha, Oumaima Zarrik [...]

Bioinformatics and Biology Insights

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Research article

First published 2006-03

New Multiple Somatic Mutations in the RET Proto-oncogene Associated with a Sporadic Medullary Thyroid Carcinoma

Š. Dvořáková, E. Václavíková, V. Sýkorová [...]

Thyroid®

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Research article

First published 2008-03

New Mutations in the Wilson Disease Gene,ATP7B : Implications for Molecular Testing

Lisa Prat Davies, Georgina Macintyre, Diane W. Cox

Genetic Testing and Molecular Biomarkers

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