MMG PUBLICATIONS

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Results: 4167  publications found.

Balzamo E, .  et al. 0

Legeai-Mallet L

Philip N. "Hum Mutat. 2007 Dec;28(12):1183-8. doi: 10.1002/humu.20611." Moncla A Hum Mutat 2007...
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T., .  et al. 0

K.; Gardiner

the Fugu APP gene spans less than 10 kb of DNA
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, .  et al. 0

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Kpebe A, .  et al. 0

Labelle V

Anvret M
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both for their highly reduced sizes and their reliable gene predictions., .  et al. 0

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Claire, .  et al. 0

Philippe M.; Davidson

Mathieu; Edery
Christine; Cristancho - issue: Ange-Line; Brunga - volume: Ledia; Ceulemans - pages: Claude; Bienvenu.

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Villard L, .  et al. 0

Stayton C

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L., .  et al. 0

M.; Fontès

it seems more likely that the XNP protein is somehow involved in regulation of gene expression. Recent genetic and biochemical studies have led to the emer
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Xilma R., .  et al. 0

Jean-Marc; Prchalová

Elsa; Simon
Samuel P.; van der Smagt - issue: Catheline; Soblet - volume: Julie; Smits - pages: Katalin; Vyhnálková.

regulation of the complement way, .  et al. 0

and co-receptor in transduction signal. Children suffering from this condition exhibit developmental delay with early-onset epilepsy

but abnormalities in electroencephalographic studies were eventually presen
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Coy J, .  et al. 0

Odent S

Till M
- issue: - volume: - pages: Moraine C. "Am J Med Genet. 2000 Nov 13;95(2):178-81. doi: 10.1002/1096-8628(20001113)95:2<178::aid-ajmg17>3.0.co;2-v." Briaul.

, .  et al. 0

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seizures were more frequently observed and intractable, .  et al. 0

and started earlier in males than in females. No correlation was observed between the age at seizure onset and severity of intellectual disability or res

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Henderson D, .  et al. 0

Mar

Lindsay S. "Hum Mol Genet. 2002 Oct 15;11(22):2793-804. doi: 10.1093/hmg/11.22.2793." Braybrook C...
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C., .  et al. 0

V.; Chiaroni

and some severe mental retardation phenotypes without alpha-thalassemia. Using a vectorette strategy
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, .  et al. 0

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and neuroimaging data of 17 patients with FHF1-DEE. Sixteen patients had recurrent heterozygous FHF1 missense variants: 14 had the recurrent p.Arg114His variant and two had a novel likely pathogenic variant p.Gly112Ser. The p.Arg114His variant is associated with an earlier onset and more severe phenotype. One patient carried a chromosomal microduplication involving FHF1. Twelve patients carried a de novo variant, .  et al. 0

five (29.5%) inherited from parents with gonadic or somatic mosaicism. Seizure onset was between 1 day and 41 months; in 76.5% it was within 30 days. Tonic seizures were the most frequent seizure type. Twelve patients (70.6%) had drug-resistant epilepsy

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