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1دورية أكاديمية
المؤلفون: Juan Rodriguez-Paris, Marta L Tamayo, Nancy Gelvez, Iris Schrijver
المصدر: PLoS ONE, Vol 6, Iss 6, p e21665 (2011)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3126855?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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2دورية أكاديمية
المؤلفون: Nancy Gélvez, Johana Acosta, Greizy López, Derly Castro, Juan Carlos Prieto, Martha Bermúdez, Marta L. Tamayo
المصدر: Biomédica: revista del Instituto Nacional de Salud, Vol 36, Iss 3, Pp 390-396 (2016)
مصطلحات موضوعية: Phenylketonurias, phenylalanine hydroxylase, intellectual disability, mutation, genetics, early diagnosis, diet, Medicine, Arctic medicine. Tropical medicine, RC955-962
وصف الملف: electronic resource
العلاقة: http://www.revistabiomedica.org/index.php/biomedica/article/view/2639Test; https://doaj.org/toc/0120-4157Test
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3دورية أكاديمية
المؤلفون: Marta L. Tamayo F., Johanna Acosta G., Nancy Gelvez M., Greizy López L., Juan Carlos Prieto R., Derly Castro R., Martha Bermúdez
المصدر: Medicina, Vol 37, Iss 4, Pp 339-348 (2015)
مصطلحات موضوعية: Fenilcetonuria, Fenilalanina Hidroxilasa, Alteración Neurológica y Cognitiva, Genética, Diagnóstico Temprano, Nutrición, Manejo, Adherencia a Tratamiento, Phenylketonuria, phenylalanine hydroxylase, neurological and cognitive alterations, early diagnosis, Medicine (General), R5-920
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Lisbeth Morales Ortiz, Nancy Gelvez Moyano, Luisa Fernanda Urrego, María Fernanda Leiva, Margarita Olarte, Marta L. Tamayo Fernández
المصدر: Revista Universitas Medica, Vol 53, Iss 2, Pp 144-153 (2012)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Liébana Ortiz, Nancy Gelvez Moyano, Luisa Fernanda Urrego, María Fernanda Leiva, Marta L. Tamayo Fernández
مصطلحات موضوعية: Cochlear Neuropathy and Hearing Loss Mechanisms, Sensory Systems, Neuroscience, Life Sciences, Otoacoustic Emissions, Humanities, FOS Humanities, Physics, Philosophy, FOS Philosophy, ethics and religion
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6دورية أكاديمية
المؤلفون: Greizy López Leal, Nancy Gelvez Moyano, Marta L. Tamayo
المصدر: Medicina, Vol 32, Iss 4, Pp 285-294 (2010)
مصطلحات موضوعية: Síndrome de Usher, Retinitis Pigmentosa, Sordera, Hipoacusia Sensorial, Usher Syndromes, Deafness, Hearing Loss, Sensorineural, Medicine (General), R5-920
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7
المؤلفون: Todd E. Scheetz, Marta L. Tamayo, Thomas L. Casavant, Josef Ekstein, Sean S. Ephraim, E. Ann Black-Ziegelbein, Scott Happe, Kimia Kahrizi, Richard J.H. Smith, A. Giuffre, Shin-ichi Usami, Hela Azaiez, Allen C. Simpson, Kevin T. Booth, Terry A. Braun, Tao Yang, Michael S. Hildebrand, Hossein Najmabadi, Niloofar Bazazzadegan, Mehmet Emin Erdal, Irene Gazquez, A. Eliot Shearer, Swati Joshi, Harini Ravi, Nancy Gelvez, Yıldırım Ahmet Bayazıt, Greizy López Leal, Chaim Jalas, Jose Gurrola, Emily M LeProust, Robert W. Eppsteiner, Jose A. Lopez-Escamez
المصدر: American journal of human genetics, vol 95, iss 4
مصطلحات موضوعية: dbSNP, Evolution, Genome-wide association study, Biology, Medical and Health Sciences, Connexins, Evolution, Molecular, Gene Frequency, Clinical Research, Report, Ethnicity, Genetics, medicine, 2.1 Biological and endogenous factors, Humans, Exome, Genetics(clinical), Aetiology, Ethnic-Specific Differences, 1000 Genomes Project, Hearing Loss, Allele frequency, Phylogeny, Genetics (clinical), Genetic testing, Genetics & Heredity, Genome, Massive parallel sequencing, medicine.diagnostic_test, Genome, Human, Human Genome, Molecular, Minor Allele Frequency, Genetic Variation, Biological Sciences, Connexin 26, Minor allele frequency, Case-Control Studies, Pathogenic Deafness Variants, Human, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb7b535ca2596b6aef410ec089b2b89cTest
https://doi.org/10.1016/j.ajhg.2014.09.001Test -
8
المؤلفون: Marta L. Tamayo, Jaime L. Frias, Jaime E. Bernal, Marta Zambrano, Gustavo M. Alvira, Gustavo E. Tamayo, Silvia L. Plaza, Cesar Maldonado
المصدر: Clinical Genetics. 50:126-132
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Eye disease, Usher syndrome, Borderline intellectual functioning, Genetics, Humans, Medicine, Abnormalities, Multiple, Child, Genetics (clinical), Depression (differential diagnoses), Neuroradiology, Neurologic Examination, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Pedigree, Child, Preschool, Female, medicine.symptom, business, Retinitis Pigmentosa, Retinopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ffe8e48ebc81ccdaf16d5fac30226feTest
https://doi.org/10.1111/j.1399-0004.1996.tb02366.xTest -
9
المؤلفون: Oscar Vergara, Vicente Rodríguez, Marta L. Tamayo, Gustavo M. Alvira, Jaime E. Bernal, Juan Carlos Silva, Jose I. Uribe, Gustavo E. Tamayo, Jaime L. Frias
المصدر: Europe PubMed Central
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Visual acuity, Hearing loss, Hearing Loss, Sensorineural, Usher syndrome, Eye disease, Consanguinity, Colombia, Retinitis pigmentosa, Prevalence, otorhinolaryngologic diseases, Genetics, Humans, Mass Screening, Medicine, Genetics (clinical), business.industry, Genetic heterogeneity, Syndrome, medicine.disease, eye diseases, Pedigree, Female, Sensorineural hearing loss, medicine.symptom, business, Retinitis Pigmentosa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fe2bcf7009e356c29f311c8867f411bTest
https://doi.org/10.1111/j.1399-0004.1991.tb03100.xTest -
10
المؤلفون: Nancy, Gélvez, Johana, Acosta, Greizy, López, Derly, Castro, Juan Carlos, Prieto, Martha, Bermúdez, Marta L, Tamayo
المصدر: Biomedica : revista del Instituto Nacional de Salud. 36(3)
مصطلحات موضوعية: Phenotype, Genotype, Phenylketonurias, Mutation, Humans, Phenylalanine Hydroxylase, Colombia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::6941f2f1e8f8dc327b6f819ae316be5eTest
https://pubmed.ncbi.nlm.nih.gov/27869385Test