অনুসন্ধান ফলাফলগুলি - Elena Martín‐Hernández

  • প্রদর্শন 1 - 7 ফলাফল এর 7
ফলাফল পরিমার্জন করুন
  1. 1
    Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

    Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome অনুযায়ী Pilar Quijada‐Fraile, Mar O’Callaghan, Elena Martín‐Hernández, Raquel Montero, Àngels García‐Cazorla, Ana Martı́nez de Aragón, Jordi Muchart, Ignacio Málaga, R Pardo, Pedro García-Gonzalez, Cristina Jou, Julio Montoya, Sonia Emperador, Eduardo Ruiz‐Pesini, Joaquı́n Arenas, Miguel A. Martı́n, Aída Ormazábal, Mercè Pineda, María Teresa García‐Silva, Rafael Artuch

    প্রকাশিত 2014
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  2. 2
    Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

    Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region অনুযায়ী Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Bélanger-Quintana, Elena Martín‐Hernández, Marcello Bellusci, E. Cañedo Villaroya, Silvia Chumillas Calzada, María Teresa García Silva, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez‐Pardo Casanova, Miguel L.F. Ruano, Magdalena Ugarte, Belén Pérez, Consuelo Pedrón‐Giner

    প্রকাশিত 2022
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  3. 3
    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy অনুযায়ী Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín‐Hernández, María J. Guillen Sacoto, Lindsay B. Henderson, Heather M. McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon

    প্রকাশিত 2018
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  4. 4
    Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

    Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy অনুযায়ী Cristina Domínguez‐González, Marcos Madruga‐Garrido, Fabiola Mavillard, Caterina Garone, Francisco Javier Aguirre‐Rodríguez, Maria Alice Donati, Karin Kleinsteuber, Itxaso Martí, Elena Martín‐Hernández, Juan P. Morealejo‐Aycinena, Francina Munell, A. Nascimento, Susana G. Kalko, M. Dolores Sardina, Concepción Álvarez del Vayo Benito, Olga López Serrano, Yuelin Long, Yuqi Tu, Bruce Lubotsky Levin, John L.P. Thompson, Kristen Engelstad, Jasim Uddin, Javier Torres‐Torronteras, C. Jimenez‐Mallebrera, Ramón Martí, Carmen Paradas, Michio Hirano

    প্রকাশিত 2019
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  5. 5
    Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

    Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases অনুযায়ী Elena Martín‐Hernández, Luis Aldámiz‐Echevarría, E. Castejón-Ponce, Consuelo Pedrón‐Giner, María L. Couce, Juliana Serrano-Nieto, Guillem Pintos‐Morell, Amaya Bélanger-Quintana, Mercedes Martínez‐Pardo, María Teresa García‐Silva, Pilar Quijada‐Fraile, Isidro Vitoria, Jaime Dalmau, Rosa A. Lama‐More, María Amor Bueno-Delgado, Mirella del Toro-Riera, Inmaculada García‐Jiménez, Concepción Sierra-Córcoles, Mónica Ruiz‐Pons, Luis Peña Quintana, Inmaculada Vives‐Piñera, Ana Heloneida de Araújo Morais, Elena Balmaseda‐Serrano, Silvia Meavilla, Pablo Sanjurjo-Crespo, Celia Pérez‐Cerdá

    প্রকাশিত 2014
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  6. 6
    Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

    Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases অনুযায়ী Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed Al‐Owain, Hamad Alzaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K. Chung, Roberto Colombo, Niklas Darín, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grünewald, Tobias B. Haack, Peter M. van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Réka Kovács-Nagy, Zita Krūmiņa, Elena Martín‐Hernández, Johannes A. Mayr, Patricia McClean, Linda De Meırleır, K Naess, Lock Hock Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa G. Riley, Benjamin Röeben, Frank Rutsch, René Santer, Manuel Schiff, Martine Seders, Sílvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W. Taylor, Joanna Trubicka, Konstantinos Tsiakas, Özlem Ünal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Éva Morava, Ewa Pronicka, Ron A. Wevers, Arjan Pm de Brouwer, Saskia B. Wortmann

    প্রকাশিত 2017
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  7. 7
    Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

    Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment অনুযায়ী Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas, Christine G. Spaeth, Stéphanie Efthymiou, Pasquale Striano, Jana Vandrovcová, Maria Concetta Cutrupi, Roberto Chimenz, Emanuele David, Gabriella Di Rosa, Anna Marcé‐Grau, Miquel Raspall‐Chaure, Elena Martín‐Hernández, Federico Zara, Carlo Minetti, Oscar D. Bello, Rita De Zorzi, Sara Fortuna, Andrew Dauber, Mariam Alkhawaja, Tipu Sultan, Kshitij Mankad, Antonio Vitobello, Quentin Thomas, Frédéric Tran Mau‐Them, Laurence Faivre, Francisco Martínez‐Azorín, Carlos E. Prada, Alfons Macaya, Dimitri M. Kullmann, James E. Rothman, Shyam S. Krishnakumar, Henry Houlden, Vincenzo Salpietro, Stéphanie Efthymiou, Yamna Kriouile, M. El Khorassani, M. Aguennouz, Blagovesta Marinova Karashova, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Lionel Van Maldergem, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Erica Pironti, Jatinder S. Goraya, Tipu Sultan, Salman Kirmani, Shahnaz Ibrahim, Farida Jan, Jun Mine, Selina Banu, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Barbara Garavaglia, Carmela Scuderi, Eugenia Borgione, Valeria Dipasquale, Maria Concetta Cutrupi, Simona Portaro, Benigno Monteagudo Sanchez, Mercedes Pineda-Marfa, Francina Munell, Alfons Macaya, Richard G. Boles, Gali Heimer, Savvas Papacostas, Andreea Manole, Nancy T. Malintan, M. Natalia Zanetti, Michael G. Hanna, James E. Rothman, Dimitri M. Kullmann, Henry Houlden

    প্রকাশিত 2019
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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