PUBLICATIONS of MMG

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Résultats : 4197  publications trouvées.

osmoregulation and neurotransmission in a mouse model of Rett syndrome. Combined with morphological and neurological findings, .  et al. 0

these results are crucial elements in providing mechanistic links between genotype and phenotype of Rett syndrome. Ultimately

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Sandra, .  et al. 0

Lionel; Barcia

Sandra; Leguern
Cyril";Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.;Journal of medical genetics;;1468-6244 0022-2593;10.1136/jmedgenet-2020-107511;;De novo missense variants in KCNH1 enc - issue: Laurent; Weckhuysen - volume: Sarah; Keren - pages: Amelie; Valence.

Am J Hum Genet. 2002 Apr, .  et al. 0

Villard L

10.1086/339433
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Missirian C, .  et al. 0

Borges A

Lindsay S
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Paringaux C, .  et al. 0

Belougne J

Moraine C
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CI 95% 1.48-6.4 and 1.19-6.05, .  et al. 0

respectively)

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N., .  et al. 0

M.; Bonnefond

A.; Chelly
- issue: T158 M (8.3%) and R306C (6.8%). Only eight - volume: - pages: followed by R270X (9%).

p.(Thr493Asn) and p.(Gly496Arg), .  et al. 0

were located in the transmembrane domains S3 and S6 of Kv10.1 and one

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, .  et al. 0

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J Med Genet. 2001 Jul, .  et al. 0

Villard L

10.1136/jmg.38.7.435
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Molinari F, .  et al. 0

Becq H

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Castiglia L, .  et al. 0

Ragusa A

Schwartz CE
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Julitta, .  et al. 0

Nathalie; Cacciagli

which could evolve to long-lasting attacks without loss of consciousness
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, .  et al. 0

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, .  et al. 0

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, .  et al. 0

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Am J Med Genet. 2000 Nov 13, .  et al. 0

Briault S

10.1002/1096-8628(20001113)95:2<178::aid-ajmg17>3.0.co;2-v
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Lacoste C, .  et al. 0

Abidi A

Isidor B
Lebrun M - issue: Ville D - volume: Marignier S - pages: Laroche C.

Depetris D, .  et al. 0

Mattei MG

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born to first-cousin parents, .  et al. 0

affected with infantile-onset myoclonic epilepsy. The peculiar epileptic presentation prompted us to perform direct sequencing of the TBC1D24 gene. The patients had very early onset of focal myoclonic fits with variable topography

in the two affected brothers. This observation combined with recent data from the literature
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