MMG PUBLICATIONS

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Results: 4196  publications found.

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L., .  et al. 0

A.; Jolliet

G.; Tran
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J Med Genet. 2008 Oct, .  et al. 0

Bahi-Buisson N

10.1136/jmg.2008.058073
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de Bellescize J, .  et al. 0

Chatron N

L
Schaefer E - issue: Nava C - volume: Panagiotakaki E - pages: Milh M.

Rio M, .  et al. 0

Doco-Fenzy M

Moutton S
- issue: Man HY.;"Hum Mol Genet. 2013 Aug 15;22(16):3306-14. doi: 10.1093/hmg/ddt187. Epub 2013 Apr 24.";Van Maldergem L;Hum Mol Genet;2013;26/04/2013;PMC3723314;;10.1093/hmg/ddt187 - volume: - pages: Villard L.

Author, .  et al. 0

Title

Abstract Note
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Katja, .  et al. 0

Maarten H.; Accogli

Coriene; Grasshoff
they have been reported with wide phenotypic variability. We report on six individuals with novel WDR62 mutations who illustrate this variability and describe three in greater detail. Of the three - issue: Niels; Morris-Rosendahl - volume: Deborah J.; Mancini - pages: Leontine; Verheijen.

Sophie, .  et al. 0

Patrick; Aeby

Gaëtan; Riquet
Marie-Ange; Van Gils - issue: Florence; Vermersch - volume: Anne-Isabelle; Altuzarra - pages: Claude; Valton.

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Med Sci (Paris). 2007 Oct, .  et al. 0

Roux JC

10.1051/medsci/20072310805
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Popovici C, .  et al. 0

Missirian C

Badens C
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Nathalie, .  et al. 0

Caroline; Abidi

Florence; Isidor
Christelle; Lebrun - issue: Mondher; Ville - volume: Dorothée; Marignier - pages: Julia; Laroche.

tubulin cofactor D (TBCD), .  et al. 0

crucial in microtubule assembly and disassembly. Sequencing of the non-duplicated allele showed a TBCD missense mutation

we propose that genetic factors contribute to mod
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at least in the tissue tested. Our data suggest that FER is not implicated in the mental retardation phenotype observed in the reported patient. Therefore the MR phenotype might not be caused by the translocation.", .  et al. 0

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Hum Mutat. 2007 Dec, .  et al. 0

Moncla A

10.1002/humu.20611
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Campeau PM, .  et al. 0

Davidson C

Edery P
Cristancho AG - issue: Brunga L - volume: Ceulemans B - pages: Bienvenu T.

Vinet MC, .  et al. 0

Jonveaux P

Tardieu M
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, .  et al. 0

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