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1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease
1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease
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1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease

TUTEJA, R ; BEMBI, B ; AGOSTI, E ; BARALLE, F. E

Human molecular genetics, 1993-06, Vol.2 (6), p.781-784 [Periódico revisado por pares]

Oxford: Oxford University Press

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2
15-lipoxygenase-2 gene regulation by its product 15-(S)-hydroxyeicosatetraenoic acid through a negative feedback mechanism that involves peroxisome proliferator-activated receptor γ
15-lipoxygenase-2 gene regulation by its product 15-(S)-hydroxyeicosatetraenoic acid through a negative feedback mechanism that involves peroxisome proliferator-activated receptor γ
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15-lipoxygenase-2 gene regulation by its product 15-(S)-hydroxyeicosatetraenoic acid through a negative feedback mechanism that involves peroxisome proliferator-activated receptor γ

SUBBARAYAN, V ; KRIEG, P ; LIPPMAN, S. M ; MENTER, D. G ; HSI, L. C ; KIM, J ; YANG, P ; SABICHI, A. L ; LLANSA, N ; MENDOZA, G ; LOGOTHETIS, C. J ; NEWMAN, R. A

Oncogene, 2006-09, Vol.25 (44), p.6015-6025 [Periódico revisado por pares]

Basingstoke: Nature Publishing

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3
15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain
15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain
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15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain

Yasui, Dag H ; Scoles, Haley A ; Horike, Shin-ichi ; Meguro-Horike, Makiko ; Dunaway, Keith W ; Schroeder, Diane I ; LaSalle, Janine M

Human molecular genetics, 2011-11, Vol.20 (22), p.4311-4323 [Periódico revisado por pares]

Oxford: Oxford University Press

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4
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
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17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

VERGULT, Sarah ; DAUBER, Andrew ; MOHAMMED, Shehla ; OGILVIE, Caroline ; CROLLA, John ; MORTIER, Geert ; MENTEN, Bjorn ; DELLE CHIAIE, Barbara ; VAN OUDENHOVE, Elke ; SIMON, Marleen ; RIHANI, Ali ; LOEYS, Bart ; HIRSCHHORN, Joel ; PFOTENHAUER, Jean ; PHILLIPS, John A

European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.534-539 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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5
2-Methoxyestradiol-induced apoptosis in human leukemia cells proceeds through a reactive oxygen species and Akt-dependent process
2-Methoxyestradiol-induced apoptosis in human leukemia cells proceeds through a reactive oxygen species and Akt-dependent process
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2-Methoxyestradiol-induced apoptosis in human leukemia cells proceeds through a reactive oxygen species and Akt-dependent process

NINE GAO ; RAHMANI, Mohamed ; DENT, Paul ; GRANT, Steven

Oncogene, 2005-05, Vol.24 (23), p.3797-3809 [Periódico revisado por pares]

Basingstoke: Nature Publishing

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6
2-Methoxyestradiol induces apoptosis in Ewing sarcoma cells through mitochondrial hydrogen peroxide production
2-Methoxyestradiol induces apoptosis in Ewing sarcoma cells through mitochondrial hydrogen peroxide production
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2-Methoxyestradiol induces apoptosis in Ewing sarcoma cells through mitochondrial hydrogen peroxide production

DJAVAHERI-MERGNY, Mojgan ; WIETZERBIN, Juana ; BESANCON, Francoise

Oncogene, 2003-05, Vol.22 (17), p.2558-2567 [Periódico revisado por pares]

Basingstoke: Nature Publishing

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7
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase
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3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase

Sass, Jörn Oliver ; Walter, Melanie ; Shield, Julian P. H. ; Atherton, Andrea M. ; Garg, Uttam ; Scott, David ; Woods, C. Geoffrey ; Smith, Laurie D.

Journal of inherited metabolic disease, 2012-05, Vol.35 (3), p.437-442 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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8
3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
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3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

Wortmann, Saskia B. ; Kluijtmans, Leo A. J. ; Rodenburg, Richard J. ; Sass, Jörn Oliver ; Nouws, Jessica ; van Kaauwen, Edwin P. ; Kleefstra, Tjitske ; Tranebjaerg, Lisbeth ; de Vries, Maaike C. ; Isohanni, Pirjo ; Walter, Katharina ; Alkuraya, Fowzan S. ; Smuts, Izelle ; Reinecke, Carolus J. ; van der Westhuizen, Francois H. ; Thorburn, David ; Smeitink, Jan A. M. ; Morava, Eva ; Wevers, Ron A.

Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.913-921 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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9
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy
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36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

Regnery, Caroline ; Kornblum, Cornelia ; Hanisch, Frank ; Vielhaber, Stefan ; Strigl-Pill, Nicola ; Grunert, Birgit ; Müller-Felber, Wolfgang ; Glocker, Franz Xaver ; Spranger, Matthias ; Deschauer, Marcus ; Mengel, Eugen ; Schoser, Benedikt

Journal of inherited metabolic disease, 2012-09, Vol.35 (5), p.837-845 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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10
5-Fluorocytosine increases the toxicity of Wnt-targeting replicating adenoviruses that express cytosine deaminase as a late gene
5-Fluorocytosine increases the toxicity of Wnt-targeting replicating adenoviruses that express cytosine deaminase as a late gene
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5-Fluorocytosine increases the toxicity of Wnt-targeting replicating adenoviruses that express cytosine deaminase as a late gene

FUERER, C ; IGGO, R

Gene therapy, 2004-01, Vol.11 (2), p.142-151 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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