MMG PUBLICATIONS

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Results: 4198  publications found.

Lauren C., .  et al. 0

Nathalie; Perrin

Jane; Antonarakis
autism - issue: Angelman syndrome (UBE3A) - volume: and Johanson-Blizzard syndrome (JBS) (UBR1). Here - pages: autism.

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Chelly PJ, .  et al. 0

Tardieu PM

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X-Linked (ATR-X, .  et al. 0

MIM #301040

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T., .  et al. 0

K.; Gardiner

the Fugu APP gene spans less than 10 kb of DNA
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in some probands, .  et al. 0

a movement disorder. E3 ubiquitin ligases are responsible for transferring ubiquitin to substrate proteins to regulate a variety of cellular functions

we found that variants in UBR5 cause a neurodevelopmental syndrome that can be associated with a movement disorder
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could be due to mutations in XNP., .  et al. 0

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Sutera-Sardo J, .  et al. 0

Borges-Correia A

Lathrop M
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Chantal, .  et al. 0

Josette; Villard

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both for their highly reduced sizes and their reliable gene predictions., .  et al. 0

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S., .  et al. 0

D.; Deliyanakis

G. T.; Kerner
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Lequin MH, .  et al. 0

Accogli A

Grasshoff U
- issue: Morris-Rosendahl DJ - volume: Mancini GM. "Am J Med Genet A. 2014 Sep;164A(9):2161-71. doi: 10.1002/ajmg.a.36611. Epub 2014 May 19." Poulton CJ Am J Med Gen - pages: Verheijen FW.

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L., .  et al. 0

M.; Fontès

it seems more likely that the XNP protein is somehow involved in regulation of gene expression. Recent genetic and biochemical studies h
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Clarissa, .  et al. 0

Stephanie; Riva

Hasnaa M.; Alavi
Nebal W.; Firoozfar - issue: Lukáš; Zafar - volume: Faisal; Rana - pages: Mathilde; Tesner.

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D., .  et al. 0

J.; Gedeon

L.";"Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation";Journal of Medical...
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