Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to 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年論文

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name

Intragenic FMR1 disease-causin ...... leading to Fragile-X syndrome.

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Intragenic FMR1 disease-causin ...... leading to Fragile-X syndrome.

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Intragenic FMR1 disease-causin ...... leading to Fragile-X syndrome.

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Intragenic FMR1 disease-causin ...... leading to Fragile-X syndrome.

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Intragenic FMR1 disease-causin ...... leading to Fragile-X syndrome.

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Intragenic FMR1 disease-causin ...... leading to Fragile-X syndrome.

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P1476

Intragenic FMR1 disease-causin ...... leading to Fragile-X syndrome

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Alice Masurel

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Anne-Laure Mosca-Boidron

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Anne-Sophie Casteleyn

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Benoit Trojak

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Bernard Jost

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Brigitte Gilbert-Dussardier

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Bénédicte Gérard

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Christel Thauvin-Robinet

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Claire Feger

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Claire Redin

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P2860

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XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

The psychiatric presentation of fragile x: evolution of the diagnosis and treatment of the psychiatric comorbidities of fragile X syndrome.

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ejhg.2016.204

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423-431

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10.1038/EJHG.2016.204

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2017-02-08T00:00:00Z

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