Showing 1 - 20 results of 102 for search '"Medical genetics"', query time: 0.18s Refine Results
  1. 1
    Clinical and molecular analysis of a patient with X-chromosome pentasomy
    Published in 2010
    Repositorio Repositorio EdocUR - U. Rosario
    Subjects: “...Medical genetic...”
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  2. 2
    ANÁLISIS CLÍNICO Y MOLECULAR DE UNA PACIENTECON PENTASOMIA DEL CROMOSOMA X.
    Published in 2010
    Repositorio Repositorio EdocUR - U. Rosario
    Subjects: “...Medical Genetic...”
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  3. 3
    Current needs for human and medical genomics research infrastructure in low and middle income countries
    Published in 2016
    Repositorio Repositorio EdocUR - U. Rosario
    Subjects: “...Medical genetics...”
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  4. 4
    Book
    The Pangenome
    Published in 2020
    Repositorio Expeditio: repositorio UTadeo
    Subjects: “...Medical genetics...”
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  5. 5
    article
    Puntos de vista de franceses respecto a lo apropiado de revelar hallazgos no solicitados en medicina genética: Un estudio preliminar
    Published in 2018
    Repositorio Repositorio Universidad Javeriana
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  6. 6
    CFTR mutations in three Latin American countries
    Published in 2000
    Repositorio Repositorio EdocUR - U. Rosario
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  7. 7
    Article of journal
    Puntos de vista de franceses respecto a lo apropiado de revelar hallazgos no solicitados en medicina genética: Un estudio preliminar
    Por Rosier, Marion; Guedj, Myriam; Calvas, Patrick; Julia, Sophie; Garnier, Christelle; Cambon-Thomsen, Anne; Muñoz Sastre, Maria Teresa
    Published in 2018
    Repositorio Repositorio Universidad Javeriana

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  8. 8
    Mutations modifying sporadic Alzheimer's disease age of onset
    Published in 2016
    Repositorio Repositorio EdocUR - U. Rosario
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  9. 9
    Descripción de la calidad de vida y evaluación del nivel de conocimiento de un individuo con síndrome de Marfan sobre su enfermedad y el tipo de mutación que se presenta a nivel mo...
    Por Galindo Ballestas, Luisa Fernanda; Manjarrez Araujo, Oriana Masiel; Páez Noriega, Rosalía
    Published in 2019
    Repositorio Repositorio Digital USB

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  10. 10
    Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects
    Published in 2011
    Repositorio Repositorio EdocUR - U. Rosario
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  11. 11
    Estudio Celular y Molecular del Gen POLR3A asociado al Síndrome Progeroide Neonatal (Síndrome de Wiedemann-Rautenstrauch)
    Por Santos-Gil, Daniel
    Published in 2023
    Repositorio Universidad Nacional de Colombia

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  12. 12
    Article of journal
    Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un caso
    Por Garzón Venegas, Eliana del Pliar; Rubio Gómez, Cladelis; Carpeta Sánchez, Suleima; Vélez Segura, Jennifer; Blanco Gómez, Jenny; Beltrán Moreno, Paola Andrea; Sánchez MD, Diana; Serrano MD, Claudia Juliana; Bonilla, Juan Carlos
    Published in 2018
    Repositorio Repositorio Digital Institucional ReDi

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  13. 13
    Modelo de epistasis basado en aprendizaje automático para pacientes con discapacidad intelectual y retraso del neurodesarrollo
    Por Murcia Triviño, Jossie Esteban
    Published in 2024
    Repositorio Universidad Nacional de Colombia

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  14. 14
    Article of investigation
    Support for association between ADHD and two candidate genes: NET1 and DRD1
    Por Bobb, Aaron; Addington, Anjene; Sidransky, Ellen; Gornick, Michele; Lerch, Jason; Greenstein, Deanna; Clasen, Liv; Sharp, Wendy; Inoff Germain, Gale; Wavrant-De Vrie`ze, Fabienne; Arcos Burgos, Oscar Mauricio; Straub, Richard; Hardy, John; Castellanos, Francisco Xavier; Rapoport, Judith
    Published in 2005
    Repositorio Repositorio UdeA

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  15. 15
    Article of journal
    Distrofia muscular de Becker con duplicación en el exón 5del gen DMD
    Por Sánchez, Ana Isabel; Mariño, Nathalie; Araujo, Andrés Felipe; Espinosa, Eugenia
    Published in 2019
    Repositorio Repositorio Digital Institucional ReDi

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  16. 16
    Article of investigation
    A Narrow and Highly Significant Linkage Signal for Severe Bipolar Disorder in the Chromosome 5q33 Region in Latin American Pedigrees
    Por Jasinska, Anna; Service, Susan; Jawaheer, Damini; DeYoung, Joseph; Levinson, Matthew; Kremeyer, Barbara; Aldana, I; García Valencia, Jenny; Restrepo Botero, Gabriel Jaime; Palacio Acosta, Carlos Alberto; Duque Vélez, Constanza Elena; Parra Marín, María Victoria; Vega Parra, Jorge Arturo; Ortíz Barrientos, Daniel; Bedoya Berrío, Gabriel de Jesús; Mathews, Carol; Davanzo, Pablo; Fournier, Eduardo; Bejarano, Julio; Arguedas Ramírez, María Gabriela; Araya Ortíz, C; Araya, Xinia; Molina, Julio; Sabattini, Chiara; Reus, Victor; Ospina Duque, Jorge; Macaya, Gabriel; Ruíz Linares, Andrés; Freimer, Nelson; López Jaramillo, Carlos Alberto
    Published in 2009
    Repositorio Repositorio UdeA

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  17. 17
    Article of investigation
    Description and results of birth defects surveillance and follow-up programs in Bogotá and Cali, Colombia, 2002-2019
    Por Zarante, Ignacio; Carreño Martínez, Angie Carolina; Ibañez-Correa, Lina Maria; Gracia, Gloria; Blandón, Esperanza; Perez, Gladys; Holguin Ruiz, Jorge Alirio; Hurtado‐Villa, Paula
    Published in 2021
    Repositorio Repositorio Universidad Javeriana

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  18. 18
    http://purl.org/coar/resource_type/c_c94f
    Search for genetic causes of microtia: results on exome sequencing of 17 trios
    Por Pachajoa Londoño, Harry Mauricio
    Published in 2015
    Repositorio Repositorio ICESI

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  19. 19
    Article of investigation
    The Latin American network for congenital malformation surveillance : ReLAMC
    Por Orioli, Iêda Maria; Dolk, Helen; Lopez-Camelo, Jorge; Groisman, Boris; Benavides-Lara, Adriana; Gimenez, Lucas Gabriel; Mattos Correa, Daniel; Ascurra, Marta; de Aquino Bonilha, Eliana; Canessa-Tapia, Maria Aurora; Araújo de França, Giovanny Vinícius; Hurtado-Villa, Paula; Ibarra-Ramírez, Marisol; Pardo, Rosa; Pastora, Dania Maria; Zarante, Ignacio; Schneider Soares, Flávia; Martinez de Carvalho, Flávia; Piola, Mariana
    Published in 2020
    Repositorio Repositorio Universidad Javeriana

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  20. 20
    Article of investigation
    Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
    Published in 2020
    Repositorio Expeditio: repositorio UTadeo
    “...Objectives: To rescue medical genetics concepts that are necessary to understand the advances...”
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