Metabuscador

Hemophilia: Molecular diagnosis and alternatives of treatment

por Bermeo S.M., Silva C.T., Fonseca D.J., Restrepo C.M.
Publicado 2007

Reflexiones y recomendaciones de la experiencia en Colombia

por Keyeux, G., Cardona, L., Peña, B., Restrepo, C. M., Mateus, H.
Publicado 2011

PCR-heteroduplex by grouping: Rapid screening carrier method for cystic fibrosis F508del mutation in Colombia

por Jay L.M., Mateus H., Fonseca D., Restrepo C.M., Keyeux G.
Publicado 2006

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability

por "Ortega?Recalde, O., Beltrán, O.I., Gálvez, J.M., Palma?Montero, A., Restrepo, C.M., Mateus, H.E., Laissue, P."
Publicado 2015

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype

por Ojeda D., Lakhal B., Fonseca D.J., Braham R., Landolsi H., Mateus H.E., Restrepo C.M., Elghezal H., Saâd A., Laissue P.
Publicado 2011

"A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis"

por "Ortega?Recalde, O., Moreno, M. B., Vergara, J. I., Fonseca, D. J., Rojas, R. F., Mosquera, H., Medina, C. L., Restrepo, C. M., Laissue, P."
Publicado 2015

CFTR mutations in three Latin American countries

por Restrepo C.M., Pineda L., Rojas-Martínez A., Gutiérrez C.A., Morales A., Gómez Y., Villalobos M.C., Borjas L., Delgado W., Myers A., Barrera-Saldaña H.A.
Publicado 2000

Mutation study of spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of endoglin and ALK1

por Fernandez-L A., Sanz-Rodriguez F., Zarrabeitia R., Perez-Molino A., Morales C., Restrepo C.M., Ramirez J.R., Coto E., Lenato G.M., Bernabeu C., Botella L.M.
Publicado 2006

Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy

por Calderon-Ospina, C. A., Galvez, J. M., López-Cabra, C., Morales. N., Restrepo, C. M., Rodríguez, J., Aristizábal-Gutiérrez, F. A., Velez-van-Meerbeke, A., Laissue, P., Fonseca-Mendoza, D. J.
Publicado 2020