MMG PUBLICATIONS

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Results: 4198  publications found.

severity of epilepsy, .  et al. 0

and type of seizures were collected. Statistical analysis was done using the IBM SPSS Version 21 software

associated with a milder Rett phenotype
- issue: - volume: - pages: .

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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