يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"María Laura Rovella"', وقت الاستعلام: 0.83s تنقيح النتائج
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    دورية أكاديمية
    Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease

    المؤلفون: Víctor Raggio, Nicolas Dell’Oca, Camila Simoes, Alejandra Tapié, Conrado Medici, Gonzalo Costa, Soledad Rodriguez, Gonzalo Greif, Estefania Garrone, María Laura Rovella, Virgina Gonzalez, Margarita Halty, Gabriel González, Jong-Yeon Shin, Sang-Yoon Shin, Changhoon Kim, Jeong-Sun Seo, Martin Graña, Hugo Naya, Lucia Spangenberg

    المصدر: Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)

    مصطلحات موضوعية: Medical genomics, Bioinformatics, Neurology, Whole genome sequencing, Medicine, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1479-7364

    URL الوصول: https://doaj.org/article/08b04bba944b49f68cb837b2d586bf94

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    Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease

    المؤلفون: Sang-Yoon Shin, Camila Simoes, Lucía Spangenberg, Alejandra Tapié, Gabriel González, Víctor Raggio, Margarita Halty, Gonzalo Greif, Hugo Naya, Changhoon Kim, Jong-Yeon Shin, Nicolás Dell’Oca, Virgina Gonzalez, Estefania Garrone, Martín Graña, María Laura Rovella, Conrado Medici, Jeong-Sun Seo, Gonzalo Costa, Soledad Rodríguez

    المصدر: Human Genomics
    REDI
    Institut Pasteur de Montevideo
    instacron:Institut Pasteur de Montevideo
    Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)

    مصطلحات موضوعية: Heart Defects, Congenital, genomica, Bioinformatics, Arterial Occlusive Diseases, Cell Cycle Proteins, Disease, QH426-470, variantes estructurales, Compound heterozygosity, Frameshift mutation, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Ciencias Naturales y Exactas, Drug Discovery, Genetics, Humans, Medicine, Child, Frameshift Mutation, Molecular Biology, Exome sequencing, 030304 developmental biology, Whole genome sequencing, 0303 health sciences, Whole Genome Sequencing, business.industry, Homozygote, Brachydactyly, Grange syndrome, Arteries, medicine.disease, Pedigree, Neurology, Ciencias de la Computación e Información, Molecular Medicine, Female, Primary Research, business, Medical genomics, Ciencias de la Información y Bioinformática, 030217 neurology & neurosurgery, Transcription Factors, Rare disease

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c632bb971b3d35bf844d71d6c764c97
    https://doi.org/10.1186/s40246-021-00328-1

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