Hasil Pencarian - J. Pié
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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 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
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
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
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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