Hasil Pencarian - Carlos Alberto González-Domínguez

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  1. 1
    Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon

    Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon oleh Roberta Salinas-Marín, Yoshiko Murakami, Carlos Alberto González-Domínguez, Carlos Alberto González-Domínguez, Mario Ernesto Cruz-Muñoz, Héctor Manuel Mora-Montes, Eva Morava, Eva Morava, Eva Morava, Taroh Kinoshita, Susana Monroy-Santoyo, Iván Martínez-Duncker, Iván Martínez-Duncker

    Diterbitkan 2022-10-01
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  2. 2
    Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

    Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele oleh Carlos Alberto González-Domínguez, Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker, Iván Martínez-Duncker

    Diterbitkan 2021-09-01
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  3. 3
    ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

    ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele oleh Carlos Alberto González-Domínguez, Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker, Iván Martínez-Duncker

    Diterbitkan 2021-09-01
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  4. 4
    Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report

    Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report oleh Ekaterina Kazakova, José Alberto Téllez-Martínez, Leonardo Flores-Lagunes, Ana Luisa Sosa-Ortiz, Karol Carillo-Sánchez, Carolina Molina-Garay, Carlos Alberto González-Domínguez, Marco Jimenez-Olivares, Francisca Fernandez-Valverde, Edwin Steven Vargas-Cañas, Martha Elisa Vázquez-Memije, Ethel Awilda Garcia-Latorre, Iván Martínez-Duncker, Carmen Alaez-Verson

    Diterbitkan 2023-06-01
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