Molecular Diagnosis of Genetic Diseases
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20

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Published By Humana Press

0896033465

Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Risk Analysis

Molecular Diagnosis of Genetic Diseases ◽

10.1385/0-89603-346-5:153 ◽

2003 ◽

pp. 153-168

Author(s):

Andrew P. Read

Keyword(s):

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Automated Genotyping in Diagnosis

Molecular Diagnosis of Genetic Diseases ◽

10.1385/0-89603-346-5:185 ◽

2003 ◽

pp. 185-204

Author(s):

Jayne S. Noble ◽

Kim J. Leach ◽

Lucy A. Ellis ◽

Graham R. Taylor

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Characterization of Gene Rearrangements and Gene Conversion Events in the 21-Hydroxylase Gene

Molecular Diagnosis of Genetic Diseases ◽

10.1385/0-89603-346-5:121 ◽

2003 ◽

pp. 121-140

Author(s):

Simon C. Ramsden ◽

Paul J. Sinnott

Keyword(s):

Gene Conversion ◽

Gene Rearrangements ◽

Hydroxylase Gene

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Genetic Counseling and Molecular Testing

Molecular Diagnosis of Genetic Diseases ◽

10.1385/0-89603-346-5:205 ◽

2003 ◽

pp. 205-218

Author(s):

Lauren Kerzin-Storrar

Keyword(s):

Genetic Counseling ◽

Molecular Testing

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PCR Techniques for Deletion, Linkage, and Mutation Analysis in Duchenne/Becker Muscular Dystrophy

Molecular Diagnosis of Genetic Diseases ◽

10.1385/0-89603-346-5:17 ◽

2003 ◽

pp. 17-36 ◽

Author(s):

Roger Mountford

Keyword(s):

Muscular Dystrophy ◽

Mutation Analysis ◽

Becker Muscular Dystrophy ◽

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Quality Assurance in Molecular Diagnosis: The UK Experience

Molecular Diagnosis of Genetic Diseases ◽

10.1385/0-89603-346-5:341 ◽

2003 ◽

pp. 341-352 ◽

Author(s):

Susan A. R. Stenhouse ◽

Helen Middleton-Price

Keyword(s):

Quality Assurance ◽

Molecular Diagnosis ◽

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Molecular Analysis of X-Chromosome Inactivation

Molecular Diagnosis of Genetic Diseases ◽

10.1385/0-89603-346-5:141 ◽

2003 ◽

pp. 141-152

Author(s):

David 0. Robinson ◽

John F. Harvey

Keyword(s):

Molecular Analysis ◽

X Chromosome ◽

X Chromosome Inactivation ◽

Chromosome Inactivation

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Searching for Mutations: Familial Adenomatous Polyposis as a Case Study

Molecular Diagnosis of Genetic Diseases ◽

10.1385/0-89603-346-5:63 ◽

2003 ◽

pp. 63-98 ◽

Author(s):

Ian M. Frayling ◽

Andrew J. Rowan

Keyword(s):

Familial Adenomatous Polyposis ◽

Adenomatous Polyposis

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Pulsed Field Gel Electrophoresis for Detection of Gene Rearrangements in Duchenne Muscular Dystrophy

Molecular Diagnosis of Genetic Diseases ◽

10.1385/0-89603-346-5:283 ◽

2003 ◽

pp. 283-298 ◽

Author(s):

David J. Cockburn ◽

Anneke Seller

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Gel Electrophoresis ◽

Pulsed Field Gel Electrophoresis ◽

Gene Rearrangements ◽

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Detection of Unstable Trinucleotide Repeats

Molecular Diagnosis of Genetic Diseases ◽

10.1385/0-89603-346-5:37 ◽

2003 ◽

pp. 37-62

Author(s):

Andrew J. Wallace

Keyword(s):

Trinucleotide Repeats

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