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Articles (256)

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1-10 of 256 results for Mutational scanning

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Select article: Molecular Scanning of the ABCA4 Gene in Spanish Patients with Retinitis Pigmentosa and Stargardt Disease: Identification of Novel Mutations

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Research article

First published 2007-7

Molecular Scanning of the ABCA4 Gene in Spanish Patients with Retinitis Pigmentosa and Stargardt Disease: Identification of Novel Mutations

S. Stenirri, S. Battistella, N. Soriani [...]

European Journal of Ophthalmology

Select article: Population Mutation Scanning of Human GHR by meltMADGE and Identification of a Paucimorphic Variant

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Research article

First published 2011-12

Population Mutation Scanning of Human GHR by meltMADGE and Identification of a Paucimorphic Variant

Khalid K. Alharbi, Guangwei Hou, Xiao-he Chen [...]

Genetic Testing and Molecular Biomarkers

Select article: Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience

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Other

First published 2001-09

Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience

Journal of Medical Screening

Select article: Meta-PCR: A Novel Method for Creating Chimeric DNA Molecules and Increasing the Productivity of Mutation Scanning Techniques

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Research article

First published 1999-1

Meta-PCR: A Novel Method for Creating Chimeric DNA Molecules and Increasing the Productivity of Mutation Scanning Techniques

Andrew J. Wallace, Chu-Lee Wu, Robert G. Elles

Genetic Testing and Molecular Biomarkers

Select article: Mutation Scanning of the NF2 Gene: An Improved Service Based on Meta-PCR/Sequencing,Dosage Analysis,and Loss of Heterozygosity Analysis

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Research article

First published 2004-12

Mutation Scanning of the NF2 Gene: An Improved Service Based on Meta-PCR/Sequencing,Dosage Analysis,and Loss of Heterozygosity Analysis

A.J. Wallace, C.J. Watson, E. Oward [...]

Genetic Testing and Molecular Biomarkers

Select article: Thousands of Lynch Syndrome-Causing Variants Uncovered via Deep Mutational Scanning

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News

First published 2021-3

Thousands of Lynch Syndrome-Causing Variants Uncovered via Deep Mutational Scanning

Inside Precision Medicine

Select article: Dominant Optic Atrophy in a Japanese Family with Opa1 Frameshift Mutation (V942fsX966)

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Announcement

First published 2007-3

Dominant Optic Atrophy in a Japanese Family with Opa1 Frameshift Mutation (V942fsX966)

T. Hayashi, T. Takeuchi, T. Gekka [...]

European Journal of Ophthalmology

Select article: Liver cancer classification via deep hybrid model from CT image with improved texture feature set and fuzzy clustering based segmentation

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Research article

First published 2024-9-13

Liver cancer classification via deep hybrid model from CT image with improved texture feature set and fuzzy clustering based segmentation

Vinnakota Sai Durga Tejaswi, Venubabu Rachapudi

Web Intelligence

Select article: Instrument Comparison for Dna Genotyping by Amplicon Melting

Free access

Review article

First published 2006-8

Instrument Comparison for Dna Genotyping by Amplicon Melting

Mark G. Herrmann, Jacob D. Durtschi, Karl V. Voelkerding [...]

Journal of Laboratory Automation

Select article: Design and Validation of a Conformation-Sensitive Capillary Electrophoresis System for Mutation Identification of the COL7A1 Gene with Automated Peak Comparison

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Research article

First published 2009-10

Design and Validation of a Conformation-Sensitive Capillary Electrophoresis System for Mutation Identification of the COL7A1 Gene with Automated Peak Comparison

Peter C. van den Akker, Wendy Hettema, Rowdy Meijer [...]

Genetic Testing and Molecular Biomarkers

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