Výsledky vyhledávání - Duat‐Rodriguez, Anna

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  1. 1
    The LINCE Project: A Pathway for Diagnosing NCL2 Disease

    The LINCE Project: A Pathway for Diagnosing NCL2 Disease Autor Rodrigues, Daniel, de Castro, Maria José, Crujeiras, Pablo, Duat-Rodriguez, Anna, Marco, Ana Victoria, del Toro, Mireia, Couce, María L., Colón, Cristóbal

    Vydáno 2022
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  2. 2
    Dystonia and Contractures are Potential Early Signs of CACNA1E-Related Epileptic Encephalopathy

    Dystonia and Contractures are Potential Early Signs of CACNA1E-Related Epileptic Encephalopathy Autor Ortiz Cabrera, Nelmar V., Duat Rodríguez, Anna, Fernández Garoz, Bárbara, Bernardino Cuesta, Beatriz, Jiménez Legido, María, Cantarín Extremera, Verónica, García Peñas, Juan J.

    Vydáno 2021
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  3. 3
    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla... Autor Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary‐Alice, Atkin, Joan, Babovic‐Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben‐Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat‐Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández‐Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano‐Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin‐Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine

    Vydáno 2015
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