PUBLICATIONS of MMG

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Résultats : 4168  publications trouvées.

Daniel G., .  et al. 0

John; Clarke

Michele; Renieri
- issue: - volume: - pages: the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipa.


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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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.


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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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