Hasil Pencarian - Alejandro Estrada-Cuzcano

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  1. 1
    Uso de la técnica SSCP para detectar mutaciones puntuales del ADN mitocondrial humano

    Uso de la técnica SSCP para detectar mutaciones puntuales del ADN mitocondrial humano oleh Alejandro Estrada-Cuzcano, José Sandoval, María L. Guevara-Fujita, Ricardo Fujita

    Diterbitkan 2013-05-01
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  2. 2
    Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12

    Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12 oleh Carlos Murga-Zamalloa, Maria Luisa Guevara-Fujita, Alejandro Estrada-Cuzcano, Ricardo Fujita

    Diterbitkan 2009-01-01
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  3. 3
    Detección de mutaciones causantes de distrofia muscular de Duchenne/Becker: reacción en cadena de la polimerasa multiplex vs. amplificación múltiple dependiente de ligación por sondas

    Detección de mutaciones causantes de distrofia muscular de Duchenne/Becker: reacción en cadena de la polimerasa multiplex vs. amplificación múltiple dependiente de ligación por son... oleh Francia DP Huaman-Dianderas, María Luisa Guevara-Fujita, DIana Rojas Málaga, Alejandro Estrada-Cuzcano, Ricardo Fujita

    Diterbitkan 2019-08-01
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  4. 4
    Identification and Characterization of Novel Founder Mutations in <i>NDRG1</i>: Refining the Genetic Landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria

    Identification and Characterization of Novel Founder Mutations in <i>NDRG1</i>: Refining the Genetic Landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria oleh Derek Atkinson, Teodora Chamova, Ayse Candayan, Kristina Kastreva, Ognian Asenov, Ivan Litvinenko, Alejandro Estrada-Cuzcano, Els De Vriendt, Georgi Kukushev, Ivailo Tournev, Albena Jordanova

    Diterbitkan 2024-08-01
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  5. 5
    WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

    WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects oleh Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller

    Diterbitkan 2023-05-01
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  6. 6
    MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

    MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB oleh María Luisa Guevara‐Fujita, Francia Huaman‐Dianderas, Daisy Obispo, Rodrigo Sánchez, Victor Barrenechea, Diana Rojas‐Málaga, Alejandro Estrada‐Cuzcano, Milana Trubnykova, Mario Cornejo‐Olivas, Victoria Marca, Bertha Gallardo, Milagros Dueñas‐Roque, Ana Protzel, Carlos Castañeda, Hugo Abarca, Luis Celis, Jorge La Serna‐Infantes, Ricardo Fujita

    Diterbitkan 2021-09-01
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  7. 7
    Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

    Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. oleh Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P M Cremers, Roser Gonzalez-Duarte, Robert K Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet

    Diterbitkan 2013-01-01
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