MMG PUBLICATIONS

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Results: 4196  publications found.

Li, .  et al. 0

Anna-Karin; Jylli

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Cardoso C, .  et al. 0

Guerrini R

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K., .  et al. 0

K.";Structures

and the cystathionine beta synthetase (CBS) gene. The human homologues of all four genes map to human chromosome 21 but are not clustered; APP and E4TF1-60 map within 21q21
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and a high likelihood of premature death. The most severe clinical presentation seems to be associated with null genotypes. CONCLUSION: Germline pathogenic variants in WWOX are clearly associated with a severe early-onset epileptic encephalopathy. We report here the largest cohort of individuals with WOREE syndrome., .  et al. 0

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which resulted in some severe, .  et al. 0

sometimes lethal

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Mnookin, S.  et al. 0

Fighting a One-of-a-Kind Disease : The New Yorker

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El-Waly B, .  et al. 0

Moncla A

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the introns are compressed only five- to eightfold. These size differences were compared with those for a number of previously reported Fugu genes, .  et al. 0

levels of compaction of Fugu genes are consistent with the isochore locations of the human homologues.";21/01/1999;07/03/2016 15:23;07/03/2016 15:23;;211-223;;2;226;;Gene;;;;;;;;eng;;;;;PubMed;;PMID: 9931491

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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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, .  et al. 0

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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.

, .  et al. 0

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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.