MMG PUBLICATIONS

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Results: 4196  publications found.

, .  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".

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Philippe, .  et al. 0

David; Lossi

we have cloned its murine ortholog
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, .  et al. 0

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and structured to counteract trends in age as well as time., .  et al. 0

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J Med Genet. 2003 Jun, .  et al. 0

Philip N

10.1136/jmg.40.6.441
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Abi-Warde MT, .  et al. 0

Barcia G

de Saint-Martin A
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Henderson D, .  et al. 0

Marçano AC

Lindsay S.;"Hum Mol Genet. 2002 Oct 15;11(22):2793-804. doi: 10.1093/hmg/11.22.2793.";Braybrook C;Hum Mol Genet;2002;11/10/2002;;;10.1093/hmg/11.22.2793
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Pierre, .  et al. 0

Affef; Sutera-Sardo

Anne Dieux; Dailland
- issue: they are affected by early onset epilepsy but their subsequent neurological development is usually normal. Mutations causing BFNE are often inherited from affected parents. Early infantile epileptic encephalopathy type 7 (EIEE7) is at the other end of th - volume: although EIEE7 patients have early onset - pages: encoding a potassium channel subunit.

maturing neurons., .  et al. 0

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Jean-Christophe", .  et al. 0

it is the second leading genetic cause of intellectual disability in girls after Down syndrome. RTT affects not only neurological function but also a wide array of non-neurological organs. RTT-related disorders involve abnormalities of the respiratory

muscular
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, .  et al. 0

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