PUBLICATIONS of MMG

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Résultats : 4168  publications trouvées.

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A., .  et al. 0

L.; Roussel

electroencephalography (EEG)
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Am J Med Genet. 2000 Mar 6, .  et al. 0

Villard L

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Font, .  et al. 0

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Fontés M, .  et al. 0

Colleaux L.;"Gene. 1999 Jul 22;235(1-2):43-50. doi: 10.1016/s0378-1119(99)00217-6.";Villard L;Gene;1999;23/07/1999;;;10.1016/s0378-1119(99)00217-6

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Katja, .  et al. 0

Maarten H.; Accogli

Coriene; Grasshoff
they have been reported with wide phenotypic variability. We report on six individuals with novel WDR62 mutations who illustrate this variability and describe three in greater detail. Of the three - issue: Niels; Morris-Rosendahl - volume: Deborah J.; Mancini - pages: Leontine; Verheijen.

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the high expression of this gene in fetal brain and in the adult cerebral cortex could be consistent with a role in brain development and/or cognitive function.", .  et al. 0

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Hum Mutat. 1999 Nov, .  et al. 0

Lévy N

10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU15>3.0.CO;2-Q
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Mignon-Ravix C, .  et al. 0

Lacoste C

Moutton S
Cances C - issue: Gueden S - volume: Lesca G - pages: Dulac O.

Giovanucci-Uzielli ML, .  et al. 0

Demidova IA

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tubulin cofactor D (TBCD), .  et al. 0

crucial in microtubule assembly and disassembly. Sequencing of the non-duplicated allele showed a TBCD missense mutation

we propose that genetic factors contribu
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S., .  et al. 0

D.; Mattei

many cases have still not been explained. METHODS: We have identified a pericentric inversion of the X chromosome inv(X)(p22.3;q13.2) segregating in a family where two male carriers have severe MR...
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Emilie, .  et al. 0

Stefania; Granjeaud

Pierre-Pascal Lenck; Aniksztejn
- issue: - volume: - pages: and ex vivo in layers II/III and V of motor cortical slices.

Basel., .  et al. 0

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J Med Genet. 1999 Oct, .  et al. 0

Villard L

10.1136/jmg.36.10.754
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Villard L, .  et al. 0

Demidova IA

Iurov IuV.;"Zh Nevrol Psikhiatr Im S S Korsakova. 2005;105(7):4-11.";Iurov IIu;Zh Nevrol Psikhiatr Im S S Korsakova;2005;25/08/2005;;;
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