PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants
Grimes, H, Ansari, M, Ashraf, T, Cueto-González, Anna Mª, Calder, A, Day, M, Fernandez Alvarez, P, Foster, A, Lahiri, N, Repetto, G M, Scurr, I, Varghese, V, Low, Karen J
Published in American journal of medical genetics. Part A (01.10.2023)
Published in American journal of medical genetics. Part A (01.10.2023)
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Journal Article
Parametric effects on the flow redistribution in ballooned bundles evaluated by magnetic resonance velocimetry
Oliveira, A.V.S., Stemmelen, D., Leclerc, S., Glantz, T., Labergue, A., Repetto, G., Gradeck, M.
Published in Experimental thermal and fluid science (01.07.2021)
Published in Experimental thermal and fluid science (01.07.2021)
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Journal Article
Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance
Fuentes, I., Campos, M., Repetto, G., Morandé, P., Yubero, M.J., Gonzalez, S., Klausegger, A., Schnitzhofer, P., Pohla‐Gubo, G., Bauer, J., Palisson, F.
Published in British journal of dermatology (1951) (01.04.2017)
Published in British journal of dermatology (1951) (01.04.2017)
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Journal Article
The COVID‐19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers
White, L. K., Crowley, T. B., Finucane, B., Garcia‐Minaur, S., Repetto, G. M., Bree, M., Fischer, M., Jacquemont, S., Barzilay, R., Maillard, A. M., Donald, K. A., Gur, R. E., Bassett, A. S., Swillen, A., McDonald‐McGinn, D. M.
Published in Journal of intellectual disability research (01.04.2022)
Published in Journal of intellectual disability research (01.04.2022)
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Journal Article
Experimental investigation on reflooding of debris beds
Leininger, S., Kulenovic, R., Rahman, S., Repetto, G., Laurien, E.
Published in Annals of nuclear energy (01.12.2014)
Published in Annals of nuclear energy (01.12.2014)
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Journal Article
The oxidative stress induced in vivo by Shiga toxin‐2 contributes to the pathogenicity of haemolytic uraemic syndrome
Gomez, S. A., Abrey‐Recalde, M. J., Panek, C. A., Ferrarotti, N. F., Repetto, M. G., Mejías, M. P., Fernández, G. C., Vanzulli, S., Isturiz, M. A., Palermo, M. S.
Published in Clinical and experimental immunology (01.09.2013)
Published in Clinical and experimental immunology (01.09.2013)
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Journal Article
Oxidative damage to rat brain in iron and copper overloads
Musacco-Sebio, Rosario, Ferrarotti, Nidia, Saporito-Magriñá, Christian, Semprine, Jimena, Fuda, Julián, Torti, Horacio, Boveris, Alberto, Repetto, Marisa G
Published in Metallomics (01.01.2014)
Published in Metallomics (01.01.2014)
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Journal Article
Expression of caveolin-1 in tooth germ, ameloblastoma and ameloblastic carcinoma
Sánchez-Romero, C, Pereira-Prado, V, Sicco, E, Suarez, M, Tapia-Repetto, G, Carreón-Burciaga, R, Gónzalez-Gónzalez, R, Villarroel-Dorrego, M, Meleti, M, Molina-Frechero, N, Bologna-Molina, R
Published in Medicina oral, patología oral y cirugía bucal (01.03.2021)
Published in Medicina oral, patología oral y cirugía bucal (01.03.2021)
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Journal Article
Antioxidant properties of natural compounds used in popular medicine for gastric ulcers
Repetto, M G, Llesuy, S F
Published in Brazilian journal of medical and biological research (01.05.2002)
Published in Brazilian journal of medical and biological research (01.05.2002)
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Journal Article
LWR severe accident simulation: synthesis of the results and interpretation of the first Phebus FP experiment FPT0
Clément, B, Hanniet-Girault, N, Repetto, G, Jacquemain, D, Jones, A.V, Kissane, M.P, von der Hardt, P
Published in Nuclear engineering and design (01.11.2003)
Published in Nuclear engineering and design (01.11.2003)
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Journal Article
Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients
Repetto, GM, Guzmán, ML, Puga, A, Calderón, JF, Astete, CP, Aracena, M, Arriaza, M, Aravena, T, Sanz, P
Published in Clinical genetics (01.11.2009)
Published in Clinical genetics (01.11.2009)
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Journal Article
Acute and subacute toxic effects produced by microcystin-YR on the fish cell lines RTG-2 and PLHC-1
Pichardo, S., Jos, A., Zurita, J.L., Salguero, M., Cameán, A.M., Repetto, G.
Published in Toxicology in vitro (01.12.2007)
Published in Toxicology in vitro (01.12.2007)
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Journal Article
Quenching of a highly superheated porous medium by injection of water
Fichot, F, Bachrata, A, Repetto, G, Fleurot, J, Quintard, M
Published in Journal of physics. Conference series (01.01.2012)
Published in Journal of physics. Conference series (01.01.2012)
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Journal Article
Differentiation of sparkling wines (cava and champagne) according to their mineral content
Jos, A., Moreno, I., González, A.G., Repetto, G., Cameán, A.M.
Published in Talanta (Oxford) (28.05.2004)
Published in Talanta (Oxford) (28.05.2004)
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Journal Article
The use of the fish cell lines RTG-2 and PLHC-1 to compare the toxic effects produced by microcystins LR and RR
Pichardo, S., Jos, A., Zurita, J.L., Salguero, M., Camean, A.M., Repetto, G.
Published in Toxicology in vitro (01.10.2005)
Published in Toxicology in vitro (01.10.2005)
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