Hasil Pencarian - J. Pié

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  1. 1
    A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria

    A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria oleh N Casals, J Pié, C H Casale, N Zapater, A Ribes, M Castro-Gago, S Rodriguez-Segade, R J Wanders, F G Hegardt

    Diterbitkan 1997-11-01
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  2. 2
    Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency

    Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency oleh C Buesa, J Pié, A Barceló, N Casals, C Mascaró, C H Casale, D Haro, M Duran, J A Smeitink, F G Hegardt

    Diterbitkan 1996-11-01
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  3. 3
    Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome

    Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome oleh Patricia Garcia, Rita Fernandez-Hernandez, Ana Cuadrado, Ignacio Coca, Antonio Gomez, Maria Maqueda, Ana Latorre-Pellicer, Beatriz Puisac, Feliciano J. Ramos, Juan Sandoval, Manel Esteller, Jose Luis Mosquera, Jairo Rodriguez, J. Pié, Ana Losada, Ethel Queralt

    Diterbitkan 2021-07-01
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  4. 4
    High rate of autonomic neuropathy in Cornelia de Lange Syndrome

    High rate of autonomic neuropathy in Cornelia de Lange Syndrome oleh M. J. Pablo, P. Pamplona, M. Haddad, I. Benavente, A. Latorre-Pellicer, M. Arnedo, L. Trujillano, G. Bueno-Lozano, L. M. Kerr, S. A. Huisman, F. J. Kaiser, F. Ramos, A. D. Kline, J. Pie, B. Puisac

    Diterbitkan 2021-10-01
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