MMG PUBLICATIONS

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Results: 4167  publications found.

Vera M., .  et al. 0

Marlène; Doco-Fenzy

Pierre; Moutton
- issue: Juliette; Man - volume: Heng-Ye";Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.;Human molecular genetics;;1460-2083 0964-6906;10.1093/hmg/ddt187;;Existence of a discrete new X-linked int - pages: Céline; Villard.


, .  et al. 0

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John, .  et al. 0

Agneta";Impact of time trends and increasing age on health behaviour of Swedish school children.;European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology

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Zh Nevrol Psikhiatr Im S S Korsakova. 2005, .  et al. 0

Iurov IIu

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Renieri A, .  et al. 0

Villard L

Armstrong J
Vignoli A - issue: Pini G - volume: Bisgaard AM - pages: Craiu D.


Kpebe A, .  et al. 0

Labelle V

Anvret M
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was only 20% compared to wild-type. No measurable current was recorded in CHO cells expressing Kv7.2(A294V) channel alone. Although the total Kv7.2(A294V) expression was rescued to wild-type levels in cells co-expressing the Kv7.3 subunit, .  et al. 0

the global current density was still reduced by 83% compared to wild-type heteromeric channel. In a configuration mimicking the patients' heterozygous genotype i.e.

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indicated moderate-to-severe ID with autistic features, .  et al. 0

strabismus in all patients

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Roberta, .  et al. 0

Claude; Barcia

Caroline; Losito
- issue: analyzed EEG recordings and archived video-EEGs of seizures and detailed characteristics of interictal and ictal EEG patterns for every patient. R - volume: - pages: Nathalie; Nabbout.


environmental factors such as socio-economic and geographical living area favourably influenced food choices and physical activity. Parental attitudes and economy are therefore important for physi, .  et al. 0

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J Med Genet. 2004 Oct, .  et al. 0

Cantagrel V

10.1136/jmg.2004.021626
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, .  et al. 0

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Villard L, .  et al. 0

Stayton C

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compared to wild-type Kv7.2/Kv7.3. In neurons, .  et al. 0

the p.A294V mutation induced a mislocalization of heteromeric mutant channels to the somato-dendritic compartment

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, .  et al. 0

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161 (72%) occurred at or following eye closure. In 119/161, .  et al. 0

pattern 1 preceded an atypical absence

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even in school-based interventions., .  et al. 0

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Horm Res. 2004, .  et al. 0

Lower KM

10.1159/000081064
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Borges-Correia A, .  et al. 0

Saudou F

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Coy J, .  et al. 0

Odent S

Till M
- issue: - volume: - pages: Moraine C.;"Am J Med Genet. 2000 Nov 13;95(2):178-81. doi: 10.1002/1096-8628(20001113)95:2<178::aid-ajmg17>3.0.co;2-v.";Briault S;Am J Med Genet;2000;15/11/2000;;;"10.1002/1096-8628(20001113)95:2<178::aid-ajmg17>3.0.co;2-v".