MMG PUBLICATIONS

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Results: 4196  publications found.

Li, .  et al. 0

Gunnar";Reduced physical exercise and health-related quality of life after Fontan palliation.;Acta paediatrica (Oslo

t
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Dauba A, .  et al. 0

Larrat B

Roux JC.;"Pharmaceutics. 2021 Aug 12;13(8):1245. doi: 10.3390/pharmaceutics13081245.";Felix MS;Pharmaceutics;2021;28/08/2021;PMC8399273;;10.3390/pharmaceutics13081245
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Nathalie, .  et al. 0

Louis; Ville

Marie-Christine; Keren
Gaëtan; Doummar - issue: Clotilde; Whalen - volume: Sandra; Heron - pages: Laurent; Richelme.

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Broussin B, .  et al. 0

Carles D

Pelluard F
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our patients confirm that ATP1A3 mutations are associated with a phenotype combining features of early-onset encephalopathy, .  et al. 0

epilepsy and dystonic fits

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Pierre, .  et al. 0

Sandra; Fredriksen

Dominique; Dubourg
Anne";TCF4 deletions in Pitt-Hopkins Syndrome.;Human mutation;;1098-1004 1059-7794;10.1002/humu.20859;;Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed - issue: Pierre; Villard - volume: Laurent; Goossens - pages: Jean; Philip.

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Borges-Correia A, .  et al. 0

Saudou F

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, .  et al. 0

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and a recurrent one. So far, .  et al. 0

a total of 20 different TCF4 gene mutations have been reported

with aim to increase the rate and specificity of PHS diagnosis.;2008-11;07/03/2016 15:17;23/06/2020 08:44;;E242-251;;11;29;;Hum. Mutat.;;;;;;;;eng;;;;;PubMed;;PMID: 18781613
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Villard L, .  et al. 0

Peyronnet-Roux J

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Christelle, .  et al. 0

Catherine; Chantot-Bastaraud

Diane; Faivre
Stéphanie; Roubertie - issue: Mathieu; Moutard - volume: Marie-Laure; Riant - pages: Isabelle; Lacombe.

Steven, .  et al. 0

Chantal; Borges

Anne; Lindsay
- issue: chromosomal translocation t(2;7)(q35;p22). Cloning and sequencing of the two translocation break - volume: - pages: we studied a fetus presenting a defect of cortical organization consisting of a polymicrogyric cortex and neuronal heterotopia within the white matter. Karyotype analysis revealed that the fetus was carrier of a balanced.

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Abada YS, .  et al. 0

Borloz E

Villard L
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then, .  et al. 0

for variants from a list of genes known to be associated with CA or very early-onset ataxia

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or XLF, .  et al. 0

in 2q35. The NHEJ1 gene was recently identified as being responsible for autosomal recessive immunodeficiency with microcephaly. Using quantitative PCR experiments

the NHEJ1 protein may also play a role during de
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