Hasil Pencarian - Juan Darío Ortigoza-Escobar

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  1. 1
    A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders

    A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders oleh Juan Darío Ortigoza-Escobar

    Diterbitkan 2020-11-01
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  2. 2
    Editorial: Pediatric Neurometabolic Disorders

    Editorial: Pediatric Neurometabolic Disorders oleh Brahim Tabarki, Juan Dario Ortigoza-Escobar, Wang-Tso Lee, Majid AlFadhel, Majid AlFadhel

    Diterbitkan 2021-09-01
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  3. 3
    Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies

    Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies oleh Jana Domínguez Carral, Carola Reinhard, Carola Reinhard, Darius Ebrahimi-Fakhari, Nathalie Dorison, Serena Galosi, Giacomo Garone, Giacomo Garone, Masa Malenica, Claudia Ravelli, Esra Serdaroglu, Laura A. van de Pol, Laura A. van de Pol, Anne Koy, Vincenzo Leuzzi, Agathe Roubertie, Jean-Pierre Lin, Jean-Pierre Lin, Diane Doummar, Laura Cif, Laura Cif, Laura Cif, Juan Darío Ortigoza-Escobar, Juan Darío Ortigoza-Escobar, Juan Darío Ortigoza-Escobar

    Diterbitkan 2024-06-01
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  4. 4
    P637: A newly derived DNA methylation signature for Koolen de Vries syndrome addresses the diagnostic challenges of the 17q21.31 locus

    P637: A newly derived DNA methylation signature for Koolen de Vries syndrome addresses the diagnostic challenges of the 17q21.31 locus oleh Zain Awamleh, Sanaa Choufani, Dmitrijs Rots, Alexander Dingemans, Juan Dario Ortigoza Escobar, David Koolen, Bert de Vries, Rosanna Weksberg

    Diterbitkan 2024-01-01
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  5. 5
    Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol

    Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol oleh Carmen Martín-Gómez, Juan Dario Ortigoza-Escobar, Laia Nou-Fontanet, Juan M. Molina-Linde, Anne-Catherine Bachoud-Lévi, Juliane Léger, Juan Antonio Blasco-Amaro

    Diterbitkan 2023-01-01
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  6. 6
    Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

    Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report oleh Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, Loreto Martorell, Judith Armstrong, Guerau Fernández Isern, José Manuel Mascaro, Sol Balsells, Itziar Alonso, Mercedes Serrano, Juan Darío Ortigoza‐Escobar

    Diterbitkan 2023-04-01
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  7. 7
    Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy

    Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy oleh Quang Tuan Rémy Nguyen, Quang Tuan Rémy Nguyen, Quang Tuan Rémy Nguyen, Juan Dario Ortigoza Escobar, Juan Dario Ortigoza Escobar, Jean-Marc Burgunder, Jean-Marc Burgunder, Caterina Mariotti, Caterina Mariotti, Carsten Saft, Carsten Saft, Lena Elisabeth Hjermind, Lena Elisabeth Hjermind, Katia Youssov, Katia Youssov, G. Bernhard Landwehrmeyer, G. Bernhard Landwehrmeyer, Anne-Catherine Bachoud-Lévi, Anne-Catherine Bachoud-Lévi, Anne-Catherine Bachoud-Lévi

    Diterbitkan 2022-02-01
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  8. 8
    Corrigendum: Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy

    Corrigendum: Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy oleh Quang Tuan Rémy Nguyen, Quang Tuan Rémy Nguyen, Quang Tuan Rémy Nguyen, Juan Dario Ortigoza Escobar, Juan Dario Ortigoza Escobar, Jean-Marc Burgunder, Jean-Marc Burgunder, Caterina Mariotti, Caterina Mariotti, Carsten Saft, Carsten Saft, Lena Elisabeth Hjermind, Lena Elisabeth Hjermind, Katia Youssov, Katia Youssov, G. Bernhard Landwehrmeyer, G. Bernhard Landwehrmeyer, Anne-Catherine Bachoud-Lévi, Anne-Catherine Bachoud-Lévi, Anne-Catherine Bachoud-Lévi

    Diterbitkan 2022-03-01
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  9. 9
    Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol.

    Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol. oleh Carmen Martín-Gómez, Juan Dario Ortigoza-Escobar, Laia Nou-Fontanet, Juan M Molina-Linde, Anne-Catherine Bachoud-Lévi, Juliane Léger, Juan Antonio Blasco-Amaro, NKX2-1-Related Disorders Guideline Working Group

    Diterbitkan 2023-01-01
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  10. 10
    Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis.

    Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis. oleh Beatriz Carmona-Hidalgo, Carmen Martín-Gómez, Estefanía Herrera-Ramos, Rocío Rodríguez-López, Laia-Nou Fontanet, José C Moreno, Juan Antonio Blasco-Amaro, Juliane Léger, Juan Dario-Ortigoza-Escobar, NKX2-1-Related Disorders Guideline Working Group

    Diterbitkan 2024-01-01
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  11. 11
    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy oleh Mercè Izquierdo-Serra, Antonio F. Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G. Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M. Fernández-Fernández, Mercedes Serrano

    Diterbitkan 2018-02-01
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  12. 12
    Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxiaResearch in context

    Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxiaResearch in context oleh Hang Lyu, Christian M. Boßelmann, Katrine M. Johannesen, Mahmoud Koko, Juan Dario Ortigoza-Escobar, Sergio Aguilera-Albesa, Deyanira Garcia-Navas Núñez, Tarja Linnankivi, Eija Gaily, Henriette J.A. van Ruiten, Ruth Richardson, Cornelia Betzler, Gabriella Horvath, Eva Brilstra, Niels Geerdink, Daniele Orsucci, Alessandra Tessa, Elena Gardella, Zofia Fleszar, Ludger Schöls, Holger Lerche, Rikke S. Møller, Yuanyuan Liu

    Diterbitkan 2023-12-01
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  13. 13
    Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease

    Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease oleh Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman

    Diterbitkan 2021-11-01
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  14. 14
    The European Reference Network for Rare Neurological Diseases

    The European Reference Network for Rare Neurological Diseases oleh Carola Reinhard, Carola Reinhard, Anne-Catherine Bachoud-Lévi, Anne-Catherine Bachoud-Lévi, Anne-Catherine Bachoud-Lévi, Tobias Bäumer, Tobias Bäumer, Enrico Bertini, Alicia Brunelle, Alicia Brunelle, Annemieke I. Buizer, Antonio Federico, Thomas Gasser, Thomas Gasser, Samuel Groeschel, Sanja Hermanns, Sanja Hermanns, Thomas Klockgether, Ingeborg Krägeloh-Mann, G. Bernhard Landwehrmeyer, Isabelle Leber, Isabelle Leber, Alfons Macaya, Caterina Mariotti, Wassilios G. Meissner, Wassilios G. Meissner, Maria Judit Molnar, Jorik Nonnekes, Juan Dario Ortigoza Escobar, Belen Pérez Dueñas, Lori Renna Linton, Ludger Schöls, Rebecca Schuele, Rebecca Schuele, Marina A. J. Tijssen, Rik Vandenberghe, Rik Vandenberghe, Anna Volkmer, Anna Volkmer, Nicole I. Wolf, Holm Graessner, Holm Graessner

    Diterbitkan 2021-01-01
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  15. 15
    Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals oleh Julián Nevado, Julián Nevado, Julián Nevado, Sixto García-Miñaúr, Sixto García-Miñaúr, Sixto García-Miñaúr, María Palomares-Bralo, María Palomares-Bralo, María Palomares-Bralo, Elena Vallespín, Elena Vallespín, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, Cristina Bel-Fenellós, María Ángeles Mori, María Ángeles Mori, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Fernando Santos-Simarro, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Jair Antonio Tenorio, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Elena Mansilla, Elena Mansilla, Isabel Vallcorba, Isabel Vallcorba, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia

    Diterbitkan 2022-04-01
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