MMG PUBLICATIONS

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Results: 4196  publications found.

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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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N., .  et al. 0

M. C.; Jonveaux

M.; Tardieu
- issue: we selected 46 typical RTT patients and performed mutation screening by denaturing gradient gel electrophoresis com - volume: - pages: MECP2.


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C., .  et al. 0

J. L.; Sanchis

respectively) and almost all the serotypes were subjected to ribotyping
- issue: that were clearly distinct from those observed for biot - volume: - pages: and HD being encountered most often (66 strains [74%]); and 20 ribotypes.


Lossi AM, .  et al. 0

Chelly J

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V. Iu, .  et al. 0

L.; Demidova

P. V.; Iurov
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have been found with multiple recurrences. Most of the mutations were de novo, .  et al. 0

except in one family where the non-affected transmitter mother exhibited a bias of X inactivation. Although this study showed that MECP2 mutations account for most cases of typical forms of RTT (65%) and mutations in non-coding regions cannot be excluded for the remaining cases

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Jérôme, .  et al. 0

Laurent; Villeneuve

Gaetan; Charles
electroencephalographi - issue: encoding the α-2 subunit of GABA(A) receptors - volume: have been recently reported. This study aims to better delineate the phenotypic spectrum of GABRA2 pathogenic variants. We conducted a retrospective multicenter study - pages: Mathieu; Bar.


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Saillour Y, .  et al. 0

Castelnau L

Bourgeois M
- issue: Pinard JM - volume: Beldjord C - pages: Roubertie A.


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