PUBLICATIONS of MMG

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Résultats : 4167  publications trouvées.

Fac Rev. 2021 Jun 29, .  et al. 0

Borloz E

10.12703/r/10-59
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Kaminska A, .  et al. 0

Laroche C

Mignon-Ravix C
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Sylviane, .  et al. 0

Yann; Villard

delineating the cerebral phenotype associated with the lack of Mecp2. We performed a morphometric study that revealed a size reduction of the whole brain and of structures involved in cognitive and...
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A., .  et al. 0

L.; Ragusa

A. K.; Schwartz
- issue: cohorts of fragile X males from two countries - volume: 43 probands from families with X-linked mental retardation and control cohorts from three countries. The duplication was found in 3.6-4.0% of male patients from two non-fragile X groups (Italy - pages: J. W.";Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.;Human genetics;;0340-6717;10.1007/s004390051006;;A recent study suggested that a dodecamer duplication in exon 42 of the HOPA gene in Xq13 ma.


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Orphanet J Rare Dis. 2021 Jul 17, .  et al. 0

Jdila MB

10.1186/s13023-021-01951-w
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Ghata A, .  et al. 0

Villard L

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we uncovered an important reduction of brain ATP level, .  et al. 0

a hitherto undetected anomaly of energy metabolism that may reflect and contribute to cerebral injury and dysfunction.;17/02/2006;07/03/2016 15:19;07/03/2016 15:19;;776-783;;3;340;;Biochem. Biophys. Res. Commun.;;;;;;;;eng;;;;;PubMed;;PMID: 16380085

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2.5% South Carolinian male college students, .  et al. 0

5% Italian male controls and 4.5% of the white South African controls. None of the black South African non-fragile X individuals with mental retardation

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Marie-Solenne, .  et al. 0

Adeline; Espanet

and blood samples were collected every week. At 3 months of age
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Genet Med. 2021 Nov, .  et al. 0

Iqbal M

10.1038/s41436-021-01260-4
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bone malformations, .  et al. 0

and early death: a distinct MCA/MR syndrome M

Jalkh N
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K., .  et al. 0

A.; Carlier

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these results reveal that carbamazepine-epoxide accumulates in the brain when given over a long period of time. They also show that chronic treatment with carbamazepine strongly impacts cognitive abilities in a mouse model of Kcnq2-DEE, .  et al. 0

questioning current treatment strategies in human patients. PLAIN LANGUAGE SUMMA

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and can thus be applied to a large number of patients at a low cost in any given laboratory., .  et al. 0

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Center for History and New Media, .  et al. 0

Zotero Quick Start Guide

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ATR-X/XNP/XH2 gene MIM #300032) Villard L, .  et al. 0

Fontes M. "Eur J Hum Genet. 2002 Apr;10(4):223-5. doi: 10.1038/sj.ejhg.5200800." Villard L Eur J Hum Genet 2002 29/05/2002 10.1038/sj.ejhg.5200800

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