FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.

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FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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FMR1 CGG repeat expansion muta ...... agnosis of fragile X syndrome.

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FMR1 CGG repeat expansion muta ...... agnosis of fragile X syndrome.

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FMR1 CGG repeat expansion muta ...... agnosis of fragile X syndrome.

@en

FMR1 CGG repeat expansion muta ...... agnosis of fragile X syndrome.

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FMR1 CGG repeat expansion muta ...... agnosis of fragile X syndrome.

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FMR1 CGG repeat expansion muta ...... agnosis of fragile X syndrome.

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P1476

FMR1 CGG repeat expansion muta ...... agnosis of fragile X syndrome.

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P2093

Arnold S C Tan

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Ethiraj B Prasath

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Felicia S H Cheah

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Indhu-Shree Rajan-Babu

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Min Chen

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Mulias Lian

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Samuel S Chong

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Seong Feei Loh

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P275

Creative Commons Attribution 4.0 International

P2860

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox

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

A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.

Screening for CGG repeat expansion in the FMR1 gene by melting curve analysis of combined 5' and 3' direct triplet-primed PCRs.

Premature ovarian failure in the fragile X syndrome.

Whole-genome multiple displacement amplification from single cells.

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

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e10

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scholarly article

review article

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10.1017/ERM.2017.10

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P478

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ScienceSource

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2017-07-19T00:00:00Z

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28720156

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nerve tissue proteins

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5733830

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