PUBLICATIONS of MMG

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Résultats : 4196  publications trouvées.

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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, .  et al. 0

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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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, .  et al. 0

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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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, .  et al. 0

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Jacques G., .  et al. 0

Lisa G.; Gunkel

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Gene. 1999 Aug 5, .  et al. 0

Villard L

10.1016/s0378-1119(99)00279-6
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Kammoun F, .  et al. 0

Fakhfakh F

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Nancy, .  et al. 0

Cornel; Missirian

Nadine; Badens
- issue: - volume: - pages: such as single exon deletion or duplication. This approach can lead to the identification of new disease genes. We report on the analysis of 54 male patients presenting with intellectual deficiency (ID) and a family history suggesting X-linked (XL) inher.

E., .  et al. 0

L.; Gecz

the breakpoint is approximately 134 kb from the 5' end of the androgen receptor (AR) gene. CONCLUSIONS: Genetic defects
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, .  et al. 0

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126 by PGY-2 residents, .  et al. 0

and 131 by PGY-3 residents. A total of 35% (160 of 449) of intubation procedures were never successful by pediatric hou

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Am J Hum Genet. 1999 Aug, .  et al. 0

Lossi AM

10.1086/302499
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Roux JC. "BMC Neurosci. 2011 May 24, .  et al. 0

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