MMG PUBLICATIONS

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Results: 4196  publications found.

Buhler E, .  et al. 0

Ben Zeev B

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and can present with early-onset epileptic encephalopathy without brain iron accumulation.European Journal of Human Genetics advance online publication, .  et al. 0

15 July 2015; doi:10.1038/ejhg.2015.159.";15/07/2015;07/03/2016 15:11;23/06/2020 08:43;;;;;;;Eur. J. Hum. Genet.;;;;;;;;ENG;;;;;PubMed;;PMID: 26173968

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, .  et al. 0

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including rubbing with a towel, .  et al. 0

fever

lighting
- issue: - volume: - pages: splicing and start-loss variants) as well as non-truncating variants (missense substitutions and in-frame duplications). Genotype-phenotype correlation revealed that epileptic phenotypes are enriched in individuals with truncating variants. Furthermor.


, .  et al. 0

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Med Sci (Paris). 2006 Jan, .  et al. 0

Villard L

10.1051/medsci/200622181
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Raynaud M, .  et al. 0

Bonnefond JP

Feingold J
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Girard N, .  et al. 0

Delepine M

Villard L.;"Eur J Hum Genet. 2014 Mar;22(3):363-8. doi: 10.1038/ejhg.2013.135. Epub 2013 Jun 12.";Cacciagli P;Eur J Hum Genet;2014;13/06/2013;PMC3925263;;10.1038/ejhg.2013.135
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Pierre, .  et al. 0

Joelle; Fawaz

and intellectual disability;Molecular Cytogenetics;;1755-8166;10.1186/s13039-015-0149-0;;BACKGROUND: The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An...
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Nadine, .  et al. 0

Marc; Zelenika

Laurent";AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability
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Leitão, .  et al. 0

Kuechler

Julia
El Chehadeh - issue: Ghoumid - volume: Caumes - pages: Willems.


Françoise, .  et al. 0

Evelyne; Richard

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Biochem Biophys Res Commun. 2006 Feb 17, .  et al. 0

Saywell V

10.1016/j.bbrc.2005.12.080
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Daniel J, .  et al. 0

Riccardi F

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Cardoso C, .  et al. 0

Guerrini R

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a depressed nasal bridge, .  et al. 0

hypertelorism

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Chatron, .  et al. 0

Lewis-Smith

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, .  et al. 0

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J Neurosci. 2005 Dec 14, .  et al. 0

Viemari JC

10.1523/JNEUROSCI.4373-05.2005
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Villard L. "Mol Neurobiol. 2015 Aug, .  et al. 0

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