Showing 1 - 20 results of 71 for search '"genetic disorder"', query time: 1.01s Refine Results
  1. 1
    Article of investigation
    Epithelial transport in disease: an overview of pathophysiology and treatment
    Por Clemente Suárez, Vicente Javier; Martín Rodríguez, Alexandra; Redondo Flórez, Laura; Villanueva Tobaldo, Carlota Valeria; Yáñez Sepúlveda, Rodrigo; Tornero Aguilera, José Francisco
    Published in 2023
    Repositorio REDICUC - Repositorio CUC

    Subjects: “...Genetic disorders...”
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  2. 2
    Article of journal
    Syndromic intellectual disability and developmental delay caused by novel de novo truncating variant in AHDC1 gene
    Por Diaz Ordoñez, L.; Ramirez Montaño, D.; Cruz, S.; Pachajoa, H.
    Published in 2019
    Repositorio Repositorio U. El Bosque

    Subjects: “...Genetic disorders...”
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  3. 3
    Common mechanisms of autoimmune diseases (the autoimmune tautology)
    Published in 2012
    Repositorio Repositorio EdocUR - U. Rosario
    Subjects: “...Genetic disorder...”
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  4. 4
    22q11.2 DS syndrome as a genetic subtype of schizophrenia
    Published in 2015
    Repositorio Repositorio EdocUR - U. Rosario
    Subjects: “...Genetic disorder...”
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  5. 5
    Primary immunodeficiency and autoimmunity: A comprehensive review
    Published in 2019
    Repositorio Repositorio EdocUR - U. Rosario
    Subjects: “...Genetic disorder...”
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  6. 6
    Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome
    Published in 2018
    Repositorio Repositorio EdocUR - U. Rosario
    Subjects: “...Genetic disorder...”
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  7. 7
    TAF1 Variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
    Published in 2015
    Repositorio Repositorio EdocUR - U. Rosario
    Subjects: “...Genetic Disorder...”
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  8. 8
    Retinal and choroidal manifestations of gastrointestinal diseases
    Published in 2013
    Repositorio Repositorio EdocUR - U. Rosario
    “... aggregates, and familial adenomatous polyposis is a genetic disorder. It is important to keep these diseases...”
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  9. 9
    Article of investigation
    Síndrome de Seckel, Dos Casos en una Familia Colombiana
    Por Pachajoa Londoño, Harry Mauricio; Isaza, Carolina; Saldarriaga, Wilmar
    Published in 2010
    Repositorio Repositorio ICESI

    “...Seckel syndrome is an infrequent autosomic recessive genetic disorder. It is characterized by short...”
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  10. 10
    Sickle cell disease: A diagnosis to keep in mind
    Published in 2018
    Repositorio Repositorio EdocUR - U. Rosario
    “...Sickle cell disease (SCD) is an autosomal recessive genetic disorder. It is the most frequent...”
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  11. 11
    Diagnóstico y estudio de cardiopatías infrecuentes: multimodalidad – miocardiopatía hipertrófica
    Published in 2019
    Repositorio Repositorio EdocUR - U. Rosario
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  12. 12
    Mutaciones heterocigóticas en el gen de la ?-galactosidasa A en dos pacientes con ACV criptogénico
    Published in 2017
    Repositorio Repositorio EdocUR - U. Rosario
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  13. 13
    Detecting unexpected growths in health technologies expenditures
    Published in 2023
    Repositorio Repositorio EdocUR - U. Rosario
    “...?ments. The most relevant case is the Burosumab, approved in 2018 to treat a rare genetic disorder...”
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  14. 14
    Article of journal
    Síndrome de Waardenburg tipo 1 en gemelos monocigóticos y su familia
    Por Duque, Gustavo Andrés; Ramírez Cheyne, Julián; Saldarriaga-Gil, Wilmar
    Published in 2016
    Repositorio Universidad Nacional de Colombia

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  15. 15
    Stent liberadores de medicamento en enfermedad coronaria prematura en jóvenes con hipercolesterolemia familiar homocigota y trasplante hepático previo
    Published in 2017
    Repositorio Repositorio EdocUR - U. Rosario
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  16. 16
    Fibromatosis gingival hereditaria: una rara enfermedad. Reporte de una familia
    Published in 2018
    Repositorio Repositorio EdocUR - U. Rosario
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  17. 17
    Trabajo de grado de pregrado
    Caracterización fisiológica de la neuropatía de pequeñas fibras en portadores de la Enfermedad de Fabry
    Por Castellar-Leones, Sandra Milena
    Published in 2017
    Repositorio Universidad Nacional de Colombia

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  18. 18
    Congenital leptin deficiency and leptin gene missense mutation found in two colombian sisters with severe obesity
    Published in 2019
    Repositorio Repositorio EdocUR - U. Rosario
    “...Background: Congenital leptin deficiency is a recessive genetic disorder associated with severe...”
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  19. 19
    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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  20. 20
    Article of investigation
    Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity
    Por Arcos Burgos, Oscar Mauricio; Yupanqui Lozno, Hernan; Bastarrachea Sosa, Raul A.; Yupanqui Velazco, Maria E.; Álvarez Jaramillo, Mónica; Medina Méndez, Esteban; Giraldo Peña, Aida P.; Arias Serrano, Alexandra; Torres Forero, Carolina; García Ordoñez, Angélica María; Mastronardi, Claudio Alberto; Restrepo, Carlos M.; Rodríguez Ayala, Ernesto; Nava González, Edna Judith; Kent Jr., Jack W.; Cole, Shelley A.; Licinio, Julio; Celis Regalado, Luis Gustavo
    Published in 2019
    Repositorio Repositorio UdeA

    “...ABSTRACT: Background: Congenital leptin deficiency is a recessive genetic disorder associated...”
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