Showing 1 - 20 results of 134 for search '"Medical genetics"', query time: 0.10s 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
    https://purl.org/coar/resource_type/c_6501
    Urgencias metabólicas y genéticas en la Unidad de Recién Nacidos: enfermedad de la orina con olor a jarabe de arce
    Por Páez Rojas, Paola Liliana; Suárez Obando, Fernando; Grupo de Nutrición, Genética y Metabolismo,
    Published in 2015
    Repositorio Repositorio U. El Bosque

    Subjects: “...Medical genetics...”
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  4. 4
    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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  5. 5
    Book
    The Pangenome
    Published in 2020
    Repositorio Expeditio: repositorio UTadeo
    Subjects: “...Medical genetics...”
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  6. 6
    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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  7. 7
    CFTR mutations in three Latin American countries
    Published in 2000
    Repositorio Repositorio EdocUR - U. Rosario
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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
    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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  10. 10
    Article of journal
    An overview of mice models: a key for understanding subtypes of mania
    Por Cuartas Arias, Jorge Mauricio; Díaz Zuluaga, Ana María; López Jaramilo, Carlos
    Published in 2016
    Repositorio Repositorio USB

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  11. 11
    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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  12. 12
    Article of journal
    Telangiectasia hemorrágica hereditaria como causa de anemia ferropénica grave de origen oscuro
    Por Pinto Angarita, Jean; García del Risco, Fernando; Puello Ramos, Walter
    Published in 2024
    Repositorio Repositorio Universidad de Cartagena

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  13. 13
    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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  14. 14
    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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  15. 15
    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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  16. 16
    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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  17. 17
    Review article
    Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder
    Por Zhou, Kaixin; Dempfle, Astrid; Arcos Burgos, Oscar Mauricio; Bakker, Steven; Banaschewski, Tobias; Biederman, Joseph; Buitelaar, Jan; Castellanos, Francisco Xavier; Doyle, Alysa; Ebstein, Richard; Ekholm, Jenny; Forabosco, Paola; Franke, Barbara; Freitag, Christine; Friedel, Susann; Gill, Michael; Hebebrand, Johannes; Hinney, Anke; Jacob, Christian; Lesch, Klaus Peter; Loo, Sandra; Lopera Restrepo, Francisco Javier; McCracken, James; McGough, James; Meyer, Jobst; Mick, Eric; Miranda Casas, Ana; Muenke, Maximilian; Mulas Delgado, Fernando; Nelson, Stanley F.; Nguyen, Trang; Oades, Robert; Ogdie, Matthew; Palacio Ortiz, Juan David; Pineda Álvarez, Daniel; Reif, Andreas; Renner, Tobias; Roeyers, Herbert; Romanos, Marcel; Rothenberger, Aribert; Schäfer, Helmut; Sergeant, Joseph; Sinke, Richard; Smalley, Susan; Sonugac Barke, Edmund; Steinhausen, Hans Christoph; Van der Meulen, Emma; Walitza, Susanne; Warnke, Andreas; Lewis, Cathryn; Faraone, Stephen; Asherson, Philip
    Published in 2008
    Repositorio Repositorio UdeA

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  18. 18
    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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  19. 19
    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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  20. 20
    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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