Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and Expression Studies

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Molecular Syndromology, Vol. 5, Iss. 2, 2014-01 ,pp. : 65-75

Karger

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Mixoploidy combined with aneuploidy in a 13 year‐old patient with severe multiple congenital abnormalities and intellectual disability

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American Journal Of Medical Genetics Part A, Vol. 176, Iss. 2, 2018-02 ,pp. : 492-495

John Wiley & Sons Inc

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Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone

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Human Molecular Genetics, Vol. 21, Iss. 13, 2012-07 ,pp. : 2923-2935

Oxford University Press

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Fibroblast phenotype in male carriers of FMR1 premutation alleles

By Garcia-Arocena Dolores   Yang Jane E.   Brouwer Judith R.   Tassone Flora   Iwahashi Christine   Berry-Kravis Elizabeth M.   Goetz Christopher G.   Sumis Allison M.   Zhou Lili   Nguyen Danh V.   Campos Luis   Howell Erin   Ludwig Anna   Greco Claudia   Willemsen Rob   Hagerman Randi J.   Hagerman Paul J.  

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Oxford University Press

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Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

By Morgan K.   Dombrowski C.   Lévesque S.   Morel M.L.   Rouillard P.   Rousseau F.  

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Oxford University Press

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