المؤلفون: Fonseca-Mendoza, Dora Janeth, Caro L.A., Sierra-Díaz D.C., Serrano-Reyes C., Londoño O., Suárez Y.C., Mateus H.E., Bolívar-Salazar D., Ramírez A.F., de-la-Torre, Alejandra, Laissue P.

المصدر: instname:Universidad del Rosario

مصطلحات موضوعية: Carbamazepine, Cefalexin, Cocodamol, Contrast medium, Cotrimoxazole, Granulysin, Lamotrigine, Metoclopramide, Phenytoin, Pyrimethamine plus sulfadoxine, Sulfonamide, Biological marker, Mutant protein, T lymphocyte antigen, Adult, Animal cell, Article, Cellular distribution, Child, Cho cell line, Clinical article, Codon, Computer model, Female, Gene frequency, Gene mutation, Gene sequence, Heterozygote, Human, Male

وصف الملف: application/pdf

العلاقة: https://repository.urosario.edu.co/handle/10336/24215Test; https://doi.org/10.1007/s00439-019-02066-wTest

الإتاحة: https://doi.org/10.1007/s00439-019-02066-wTest
https://repository.urosario.edu.co/handle/10336/24215Test

المؤلفون: Ortega?Recalde, O., Beltrán, O.I., Gálvez, J.M., Palma?Montero, A., Restrepo, Carlos M., Mateus, H.E., Laissue, P.

المصدر: instname:Universidad del Rosario

مصطلحات موضوعية: Allele, Article, Case report, Clinical feature, Colombian, Exome, Face dysmorphia, Female, Gene, Genotype phenotype correlation, Herc 1 gene, Human, Intellectual impairment, Male, Molecular diagnosis, Newborn, Pathogenesis, Priority journal, Sequence analysis, Sibling, Dna mutational analysis, Genetic association study, Genetics, Growth disorder, Human genome, Mutation, Pathology, Syndrome, Guanine nucleotide exchange factor, Genetic association studies

وصف الملف: application/pdf

العلاقة: https://repository.urosario.edu.co/handle/10336/23680Test; https://doi.org/10.1111/cge.12634Test

الإتاحة: https://doi.org/10.1111/cge.12634Test
https://repository.urosario.edu.co/handle/10336/23680Test

المؤلفون: Agudelo, J.A., Gálvez, J.M., Fonseca, D.J., Mateus, H.E., Talero-Gutiérrez, C., Velez-Van-Meerbeke, A.

المصدر: Neurología (English Edition) ; volume 30, issue 3, page 137-143 ; ISSN 2173-5808

الإتاحة: https://doi.org/10.1016/j.nrleng.2013.12.010Test
https://api.elsevier.com/content/article/PII:S2173580815000310?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S2173580815000310?httpAccept=text/xmlTest

المؤلفون: Agudelo, J.A., Gálvez, J.M., Fonseca, D.J., Mateus, H.E., Talero-Gutiérrez, C., Velez-Van-Meerbeke, A.

المصدر: Neurología ; volume 30, issue 3, page 137-143 ; ISSN 0213-4853

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1016/j.nrl.2013.12.005Test
https://api.elsevier.com/content/article/PII:S0213485313002910?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0213485313002910?httpAccept=text/xmlTest

المؤلفون: Ojeda D., Lakhal B., Fonseca-Mendoza, Dora Janeth, Braham R., Landolsi H., Mateus H.E., Restrepo, Carlos M., Elghezal H., Saâd A., Laissue P.

المصدر: instname:Universidad del Rosario

مصطلحات موضوعية: Cyclin dependent kinase inhibitor 1B, Follitropin, Adult, Article, Autoimmune disease, Controlled study, Female, Female infertility, Follitropin blood level, Gene mutation, Genetic analysis, Genetic code, Human, Informed consent, Karyotype, Major clinical study, Ovary development, Ovary insufficiency, Pelvis surgery, Phenotype, Premature ovarian failure, Priority journal, Sequence analysis, Single nucleotide polymorphism, CDKN1B, Mutations, Premature ovarian failure (POF), Sequencing

وصف الملف: application/pdf

العلاقة: 150282; https://repository.urosario.edu.co/handle/10336/24059Test; https://doi.org/10.1016/j.fertnstert.2011.04.045Test

الإتاحة: https://doi.org/10.1016/j.fertnstert.2011.04.045Test
https://repository.urosario.edu.co/handle/10336/24059Test

المؤلفون: Mateus H.E., Fonseca-Mendoza, Dora Janeth, Sanchez L.S., Peñaloza I.F., Forero D.V., Perdomo P.A., Quiasua D.C., Ramírez A., Montoya L.C., Pérez L.A., Amado H.P., Molano J.A., Amaya S.A., Duran M.H., Cárdenas V.C., Guevara K., Parga D.A., Esparrogosa C.L.

المصدر: instname:Universidad del Rosario

مصطلحات موضوعية: Phenylalanine, Transmembrane conductance regulator, Adult, Article, Colombia, Controlled study, Cystic fibrosis, Female, Gene deletion, Gene frequency, Gene mutation, Genetic screening, Heteroduplex analysis, Heterozygote detection, Human, Human experiment, Male, Medical student, Normal human, Polymerase chain reaction, Carrier, Deltaf508

وصف الملف: application/pdf

العلاقة: https://repository.urosario.edu.co/handle/10336/23718Test

الإتاحة: https://repository.urosario.edu.co/handle/10336/23718Test

المؤلفون: Ortega-Recalde, O., Fonseca, D.J., Patino, L.C., Atuesta, J.J., Rivera-Nieto, C., Restrepo, C.M., Mateus, H.E., van der Knaap, M.S., Laissue, P.

المصدر: Ortega-Recalde , O , Fonseca , D J , Patino , L C , Atuesta , J J , Rivera-Nieto , C , Restrepo , C M , Mateus , H E , van der Knaap , M S & Laissue , P 2013 , ' A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations ' , Mitochondrion , vol. 13 , no. 6 , pp. 749-754 . https://doi.org/10.1016/j.mito.2013.03.010Test

العلاقة: https://research.vumc.nl/en/publications/3f11b8a0-250c-4d23-9616-1c3e091e71dfTest

الإتاحة: https://doi.org/10.1016/j.mito.2013.03.010Test
https://research.vumc.nl/en/publications/3f11b8a0-250c-4d23-9616-1c3e091e71dfTest

المؤلفون: Mateus H.E., Fonseca-Mendoza, Dora Janeth, Sanchez L.S., Peñaloza I.F., Forero D.V., Perdomo P.A., Quiasua D.C., Ramírez A., Montoya L.C., Pérez L.A., Amado H.P., Molano J.A., Amaya S.A., Duran M.H., Cárdenas V.C., Guevara K., Parga D.A., Esparrogosa C.L.

المصدر: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

مصطلحات موضوعية: Adult, Male, Medical student, Gene deletion, Phenylalanine, Colombia, Transmembrane conductance regulator, Gene frequency, Article, Cystic fibrosis, Heteroduplex analysis, Normal human, Polymerase chain reaction, Human experiment, Genetic screening, Deltaf508, Female, Heterozygote detection, Carrier, Gene mutation, Controlled study, Human

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3056::e6d97a1e7afd51b5800db12fc91d1dd1Test
https://repository.urosario.edu.co/handle/10336/23718Test

المؤلفون: Agudelo, J.A., Gálvez, J.M., Fonseca, D.J., Mateus, H.E., Talero-Gutiérrez, C., Velez-Van-Meerbeke, A.

المصدر: Neurología; April 2015, Vol. 30 Issue: 3 p137-143, 7p