MMG PUBLICATIONS

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Results: 4168  publications found.

a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene., .  et al. 0

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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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, .  et al. 0

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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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, .  et al. 0

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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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, .  et al. 0

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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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