(Q34569274)

3 August 2017

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title

Diagnostic tests for fragile X syndrome (English)

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3 August 2017

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Oostra BA

1

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3 August 2017

Willemsen R

series ordinal

2

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3 August 2017

publication date

1 July 2001

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Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

3 August 2017

published in

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3 August 2017

volume

1

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3 August 2017

issue

2

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3 August 2017

page(s)

226-232

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1586%2F14737159.1.2.226

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.1.2.226

Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.1.2.226

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.1.2.226

Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.1.2.226

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.1.2.226

A point mutation in the FMR-1 gene associated with fragile X mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.1.2.226

Screening for the fragile X syndrome among mentally retarded males by hair root analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.1.2.226

Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.1.2.226

21 January 2018

Identifiers

DOI

10.1586/14737159.1.2.226

1 reference

3 August 2017

1 reference