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1
Broadening the phenotype of the TWNK gene associated Perrault syndrome
Broadening the phenotype of the TWNK gene associated Perrault syndrome
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Broadening the phenotype of the TWNK gene associated Perrault syndrome

Fekete, Bálint ; Pentelényi, Klára ; Rudas, Gabor ; Gál, Anikó ; Grosz, Zoltán ; Illés, Anett ; Idris, Jimoh ; Csukly, Gabor ; Domonkos, Andor ; Molnar, Maria Judit

BMC medical genetics, 2019-12, Vol.20 (1), p.198-198, Article 198 [Periódico revisado por pares]

England: BioMed Central Ltd

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2
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
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Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

Kume, Kodai ; Morino, Hiroyuki ; Miyamoto, Ryosuke ; Matsuda, Yukiko ; Ohsawa, Ryosuke ; Kanaya, Yuhei ; Tada, Yui ; Kurashige, Takashi ; Kawakami, Hideshi

BMC medical genetics, 2020-03, Vol.21 (1), p.68-4, Article 68 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Semantic confusion regarding the development of multisensory integration: a practical solution
Semantic confusion regarding the development of multisensory integration: a practical solution
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Semantic confusion regarding the development of multisensory integration: a practical solution

Stein, Barry E. ; Burr, David ; Constantinidis, Christos ; Laurienti, Paul J. ; Alex Meredith, M. ; Perrault Jr, Thomas J. ; Ramachandran, Ramnarayan ; Röder, Brigitte ; Rowland, Benjamin A. ; Sathian, K. ; Schroeder, Charles E. ; Shams, Ladan ; Stanford, Terrence R. ; Wallace, Mark T. ; Yu, Liping ; Lewkowicz, David J.

The European journal of neuroscience, 2010-05, Vol.31 (10), p.1713-1720 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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4
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Dollfus, Hélène ; Calvas, Patrick ; Munnich, Arnold ; Souied, Eric ; Ghazi, Ihmad ; Rozet, Jean Michel ; Perrault, Isabella ; Camuzat, Agnès ; Châtelin, Sophie ; Paslier, Denis Le ; Dufier, Jean-Louis ; Gerber, Sylvie ; Pittler, Steven ; Bonnemaison, Michel ; Frézal, Jean ; Leowski, Corinne ; Kaplan, Josseline

Nature genetics, 1996-12, Vol.14 (4), p.461-464 [Periódico revisado por pares]

London: Nature Publishing Group

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5
The effect of storage solutions, gene therapy, and antiproliferative agents on endothelial function and saphenous vein graft patency
The effect of storage solutions, gene therapy, and antiproliferative agents on endothelial function and saphenous vein graft patency
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The effect of storage solutions, gene therapy, and antiproliferative agents on endothelial function and saphenous vein graft patency

Ben Ali, Walid ; Bouhout, Ismail ; Perrault, Louis P.

Journal of cardiac surgery, 2018-05, Vol.33 (5), p.235-242 [Periódico revisado por pares]

United States

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6
Stress-induced senescence predominates in endothelial cells isolated from atherosclerotic chronic smokers
Stress-induced senescence predominates in endothelial cells isolated from atherosclerotic chronic smokers
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Stress-induced senescence predominates in endothelial cells isolated from atherosclerotic chronic smokers

Farhat, Nada ; Thorin-Trescases, Nathalie ; Voghel, Guillaume ; Villeneuve, Louis ; Mamarbachi, Maya ; Perrault, Louis P ; Carrier, Michel ; Thorin, Eric

Canadian journal of physiology and pharmacology, 2008-11, Vol.86 (11), p.761-769 [Periódico revisado por pares]

Plattsburgh, NY: National Research Council of Canada

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7
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
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Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

Gerber, S ; Perrault, I ; Hanein, S ; Barbet, F ; Ducroq, D ; Ghazi, I ; Martin-Coignard, D ; Leowski, C ; Homfray, T ; Dufier, J L ; Munnich, A ; Kaplan, J ; Rozet, J M

European journal of human genetics : EJHG, 2001-08, Vol.9 (8), p.561-571 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Spectrum of retGC1 mutations in Leber's congenital amaurosis
Spectrum of retGC1 mutations in Leber's congenital amaurosis
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Spectrum of retGC1 mutations in Leber's congenital amaurosis

Perrault, I ; Rozet, J M ; Gerber, S ; Ghazi, I ; Ducroq, D ; Souied, E ; Leowski, C ; Bonnemaison, M ; Dufier, J L ; Munnich, A ; Kaplan, J

European journal of human genetics : EJHG, 2000-08, Vol.8 (8), p.578-582 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
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Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

Rozet, J M ; Gerber, S ; Souied, E ; Perrault, I ; Châtelin, S ; Ghazi, I ; Leowski, C ; Dufier, J L ; Munnich, A ; Kaplan, J

European journal of human genetics : EJHG, 1998-05, Vol.6 (3), p.291-295 [Periódico revisado por pares]

England

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10
Role of chromosome stability and telomere length in the production of viable cell lines for somatic cell nuclear transfer
Role of chromosome stability and telomere length in the production of viable cell lines for somatic cell nuclear transfer
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Role of chromosome stability and telomere length in the production of viable cell lines for somatic cell nuclear transfer

Mastromonaco, Gabriela F ; Perrault, Steve D ; Betts, Dean H ; King, W Allan

BMC developmental biology, 2006-08, Vol.6 (1), p.41-41, Article 41 [Periódico revisado por pares]

England: BioMed Central Ltd

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