Hasil Pencarian - Alejandra Tapié

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  1. 1
    Retinosquisis ligada al cromosoma X

    Retinosquisis ligada al cromosoma X oleh Ana Batalla, Soledad Rodríguez, Alejandra Tapié, Salomón Saúl, Víctor Raggio

    Diterbitkan 2021-10-01
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  2. 2
    Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause

    Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause oleh Lucía Spangenberg, Rosario Guecaimburú, Alejandra Tapié, Susana Vivas, Soledad Rodríguez, Martín Graña, Hugo Naya, Víctor Raggio

    Diterbitkan 2021-05-01
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  3. 3
    Fibrodysplasia ossificans progressiva in a 3-year-old female patient

    Fibrodysplasia ossificans progressiva in a 3-year-old female patient oleh Cecilia Moreira, Gabriel Dapueto, Gabriel Peluffo, Alejandra Vomero, Alejandra Tapié, Soledad Rodríguez, Victor Raggio, Rodrigo Suárez, Gustavo Giachetto, Loreley García

    Diterbitkan 2023-01-01
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  4. 4
    Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report

    Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report oleh Camila Simoes, Martín Graña, Soledad Rodriguez, Federico Baltar Yanes, Alejandra Tapié, Nicolás Dell’Oca, Hugo Naya, Víctor Raggio, Lucía Spangenberg

    Diterbitkan 2022-09-01
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  5. 5
    Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report

    Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report oleh Federico Baltar, Federico Baltar, Camila Simoes, Camila Simoes, Francisco Garagorry, Martín Graña, Soledad Rodríguez, María Haydée Aunchayna, Alejandra Tapié, Alfredo Cerisola, Gabriel González, Hugo Naya, Hugo Naya, Lucía Spangenberg, Lucía Spangenberg, Víctor Raggio

    Diterbitkan 2024-05-01
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  6. 6
    Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease

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

    Diterbitkan 2021-05-01
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  7. 7
    Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy

    Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy oleh Víctor Raggio, Martín Graña, Erik Winiarski, Santiago Mansilla, Camila Simoes, Soledad Rodríguez, Mariana Brandes, Alejandra Tapié, Laura Rodríguez, Lucía Cibils, Martina Alonso, Jennyfer Martínez, Tamara Fernández-Calero, Fernanda Domínguez, Melania Rosas Mezquida, Laura Castro, Alfredo Cerisola, Hugo Naya, Adriana Cassina, Celia Quijano, Lucía Spangenberg

    Diterbitkan 2023-02-01
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