MMG PUBLICATIONS

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Results: 4168  publications found.

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".

, .  et al. 0

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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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Zh Nevrol Psikhiatr Im S S Korsakova. 2002, .  et al. 0

Vorsanova SG

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Maroofian R, .  et al. 0

Hertecant J
Chabrol B - issue: Scherf de Almeida T - volume: Molinari F - pages: Makhdoom EUH.

Villard L, .  et al. 0

Gecz J

- issue: - volume: - pages: .

and found that these individuals were mosaic for the KCNQ2 mutation. These findings have important consequences for genetic counseling and indicate that neurological development can be normal in the presence of somatic mosaicism for a KCNQ2 mutation., .  et al. 0

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Anne, .  et al. 0

Josette; Villard

significantly improved their respiratory rhythm during several weeks. In addition
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, .  et al. 0

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, .  et al. 0

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Hum Mol Genet. 2002 Oct 15, .  et al. 0

Braybrook C

10.1093/hmg/11.22.2793
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