Search Results - Arias-Almeida, Benjamin

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  1. 1
    Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings

    Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings by Aguirre, Alex S, Haro, Edison, Campodónico, Alberto, Arias-Almeida, Benjamín, Mendoza, Alissa, Pozo-Palacios, Juan, Aguilar, Vanessa Isabel Romero

    Published in BMC pediatrics
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  2. 2
    AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings

    AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings by Romero, Vanessa I, Sáenz, Samantha, Arias-Almeida, Benjamín, DiCapua, Daniela, Hosomichi, Kazuyoshi

    Published in Frontiers in neurology
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  3. 3
    Novel Variation in Acyl-CoA Synthetase Long Chain Family Member 6 (ACSL6) Results in Protein Structural Modification and Multiple Non-Related Neoplasia in a 46-Year-Old: Case Report

    Novel Variation in Acyl-CoA Synthetase Long Chain Family Member 6 (ACSL6) Results in Protein Structural Modification and Multiple Non-Related Neoplasia in a 46-Year-Old: Case Repor... by Castillo, María Isabel, Freire, Erick, Romero, Vanessa I., Arias-Almeida, Benjamín, Reyes, Carlos, Hosomichi, Kazuyoshi

    Published in Frontiers in oncology
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  4. 4
    Novel ribosomal protein L26 variant and modeling in a patient with Diamond–Blackfan anemia: Case report

    Novel ribosomal protein L26 variant and modeling in a patient with Diamond–Blackfan anemia: Case report by Peñaloza, Diana, Paredes, Diana, Arias‐Almeida, Benjamín, Hosomichi, Kazuyoshi, Reyes, Carlos, Romero, Vanessa Isabel

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  5. 5
    Evaluation of Biological Activity of Natural Compounds: Current Trends and Methods

    Evaluation of Biological Activity of Natural Compounds: Current Trends and Methods by Barba-Ostria, Carlos, Carrera-Pacheco, Saskya E, Gonzalez-Pastor, Rebeca, Heredia-Moya, Jorge, Mayorga-Ramos, Arianna, Rodríguez-Pólit, Cristina, Zúñiga-Miranda, Johana, Arias-Almeida, Benjamin, Guamán, Linda P

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  6. 6
    NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome

    NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome by Romero, Vanessa I, Arias-Almeida, Benjamin, Aguiar, Stefanie A

    Published in BMC genomics
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  7. 7
    AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings

    AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings by Romero, Vanessa I, Sáenz, Samantha, Arias-Almeida, Benjamín, DiCapua, Daniela, Hosomichi, Kazuyoshi

    Published in Frontiers in neurology
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  8. 8
    Novel Variation in Acyl-CoA Synthetase Long Chain Family Member 6 (ACSL6) Results in Protein Structural Modification and Multiple Non-Related Neoplasia in a 46-Year-Old: Case Report

    Novel Variation in Acyl-CoA Synthetase Long Chain Family Member 6 (ACSL6) Results in Protein Structural Modification and Multiple Non-Related Neoplasia in a 46-Year-Old: Case Repor... by Castillo, María Isabel, Freire, Erick, Romero, Vanessa I, Arias-Almeida, Benjamín, Reyes, Carlos, Hosomichi, Kazuyoshi

    Published in Frontiers in oncology
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