PUBLICATIONS of MMG

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Résultats : 4167  publications trouvées.

Pierre, .  et al. 0

Emmanuelle; Ben Zeev

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Spain and Latvia. Clinical data have been compared with the two previously reported patients with mutations in FOXG1. In all cases hypotonia, .  et al. 0

irresponsiveness and irritability were present in the neonatal period. At birth

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Hum Mutat. 2008 Nov, .  et al. 0

Giurgea I

10.1002/humu.20859
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Villard L, .  et al. 0

Peyronnet-Roux J

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Villard L, .  et al. 0

Orellana C

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we hypothesized that the observed phenotype was due to mutations in the same gene, .  et al. 0

and we performed exome sequencing in three affected individuals. Analysis of rare variants in genes consistent with an autosomal-recessive mode of inheritance led to identification of mutations in SLC13A5

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and perisylvian polymicrogyria. The duplicated segment is intrachromosomal, .  et al. 0

duplicated in mirror and contains two genes: enolase 1 (ENO1) and RERE

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, .  et al. 0

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Brain Res. 2008 Oct 21, .  et al. 0

Dura E

10.1016/j.brainres.2008.08.021
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Abada YS, .  et al. 0

Borloz E

Villard L
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Gecz J, .  et al. 0

Houdayer C

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, .  et al. 0

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, .  et al. 0

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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.