학술논문
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'학술논문'
에서 검색결과 238건 | 목록
1~20
Academic Journal
Le, Adam, MSc; Thibault, Kelly-Ann, DEC; Yazdani, Pouneh Amir, MD; Chapleau, Alexandra, HBSc; van Voorst, Romy J., MSc; Bertini, Enrico, MD; Nicita, Francesco, MD, PhD; Pohl, Daniela, MD, PhD; Venkateswaran, Sunita, MD; Keller, Stephanie, MD; Renaud, Deborah, MD; Gonzalez Moron, Dolores, MD, PhD; Kauffman, Marcelo, MD, MSc, PhD; De Assis Pereira, Danilo, MD; Vanderver, Adeline, MD; van der Knaap, Marjo S., MD, PhD; Morsa, Maxime, PhD; Bernard, Geneviève, MD, MSc, FRCPc
Pediatric Neurology. 176:31-40
Academic Journal
Guelbert, Norberto ; Espitia Segura, Oscar Mauricio ; Amoretti, Carolina ; Arteaga Arteaga, Angélica ; Atanacio, Nora Graciela ; Bazan Natacha, Sabrina ; Carvalho, Ellaine Doris Fernandes ; Carvalho de Andrade, Maria Denise Fernandes ; Denzler, Inés María ; Durand, Consuelo ; Ribeiro, Erlane ; Giugni, Juan Carlos ; González, Gabriel ; González Moron, Dolores ; Guelbert, Guillermo ; Hernández Rodriguez, Zulma Janneth ; Embiruçu Emilia, Katiane ; Kauffman, Marcelo Andrés ; Mancilla, Nury Isabel ; Marcon, Laureano ; Marques Pereira, Alessandra ; Fischinger Moura de Souza, Carolina ; Muñoz, Victor Adrián ; Naranjo Flórez, Ricardo Andrés ; Pessoa, André Luiz ; Ruiz, María Victoria ; Solano Villareal, Martha Luz ; Spécola, Norma ; Tavera, Lina Marcela ; Tello, Javiera ; Troncoso Schifferli, Mónica ; Ugrina, Sonia ; Vaccarezza, María Magdalena ; Vergara, Diane ; Villanueva, María Mercedes
In Molecular Genetics and Metabolism Reports March 2024 38
Academic Journal
Quarracino, Cecilia ; Lopez Bisso, Abril ; Zavala, Lucía ; González Morón, Dolores ; Bohorquez Morera, Natalia ; Kauffman, Marcelo ; Rodríguez, Gabriel Eduardo
In Neurología Argentina January-March 2022 14(1):8-12
Academic Journal
Salinas, Valeria ; Vega, Patricia ; Piccirilli, María Victoria ; Chicco, Carla ; Ciraolo, Carlos ; Christiansen, Silvia ; Consalvo, Damián ; Perez-Maturo, Josefina ; Medina, Nancy ; González-Morón, Dolores ; Novaro, Virginia ; Perrone, Cecilia ; García, María del Carmen ; Agosta, Guillermo ; Silva, Walter ; Kauffman, Marcelo
In European Journal of Medical Genetics November 2019 62(11)
Academic Journal
In Multiple Sclerosis and Related Disorders May 2018 22:77-82
Academic Journal
Guelbert, Norberto ; Espitia Segura, Oscar Mauricio ; Amoretti, Carolina ; Arteaga Arteaga, Angélica ; Atanacio, Nora Graciela ; Bazan, Natacha Sabrina ; Fernandes Carvalho, Ellaine Doris ; Fernandes Carvalho de Andrade, Maria Denise ; Denzler, Inés María ; Durand, Consuelo ; Ribeiro, Erlane ; Giugni, Juan Carlos ; González, Gabriel ; González Moron, Dolores ; Guelbert, Guillermo ; Hernández Rodriguez, Zulma Janneth ; Emilia, Katiane Embiruçu ; Kauffman, Marcelo Andrés ; Mancilla, Nury Isabel ; Marcon, Laureano ; Marques Pereira, Alessandra ; Fischinger Moura de Souza, Carolina ; Muñoz, Victor Adrián ; Naranjo Flórez, Ricardo Andrés ; Pessoa, André Luiz ; Ruiz, María Victoria ; Solano Villareal, Martha Luz ; Spécola, Norma ; Tavera, Lina Marcela ; Tello, Javiera ; Troncoso Schifferli, Mónica ; Ugrina, Sonia ; Vaccarezza, María Magdalena ; Vergara, Diane ; Villanueva, María Mercedes
In Molecular Genetics and Metabolism Reports December 2024 41
Academic Journal
Rosales, Julieta ; Medina, Nancy ; Martínez, Nerina ; Rodríguez-Quiroga, Sergio ; Córdoba, Marta ; Vazquez-Dusefante, Cecilia ; Vega, Patricia ; Taratuto, Ana Lía ; Kauffman, Marcelo Andrés ; González-Morón, Dolores
In Neurología Argentina October-December 2017 9(4):231-242
Academic Journal
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
Consejo Nacional de Investigaciones Científicas y Técnicas
Academic Journal
Córdoba, Marta ; González Morón, Dolores ; Rodríguez-Quiroga, Sergio Alejandro ; Kauffman, Marcelo Andrés
In Neurología Argentina July-September 2014 6(3):127-136
Academic Journal
Wolf, Nicole I.; Vanderver, Adeline; van Spaendonk, Rosalina M. L.; Schiffmann, Raphael; Brais, Bernard; Bugiani, Marianna; Sistermans, Erik; Catsman-Berrevoets, Coriene; Kros, Johan M.; Pinto, Pedro Soares; Pohl, Daniela; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Fribourg, Sébastien; Demos, Michelle; Pizzino, Amy; Naidu, Sakkubai; Guerrero, Kether; van der Knaap, Marjo S.; Bernard, Geneviève; Benko, William; Boltshauser, Eugen; Bonkowsky, Joshua; Brouwer, Oebele F.; Brozova, Klara; Champaigne, Neena L.; Cimas, Icíar; Clough, Christopher; Cohen, Ana; Collins, Abigail; Corenblum, Bernard; Dai, Lanlan; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Eugenia Garcia Garcia, Maria; Gasparini, Paolo; Gburek-Augustat, Janina; Gibson, William; Gonzalez Moron, Dolores; Guo, Yiran; Hakonarson, Hakon; Hamati, Aline; Harms, Nils; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace; Poll-Thé, Bwee-Tien; Stromme, P.
Wolf, N I, Vanderver, A, van Spaendonk, R M L, Schiffmann, R, Brais, B, Bugiani, M, Sistermans, E A, Catsman-Berrevoets, C, Kros, J M, Pinto, P S, Pohl, D, Tirupathi, S, Stromme, P, de Grauw, T, Fribourg, S, Demos, M, Pizzino, A, Naidu, S, Guerrero, K, van der Knaap, M S & Bernard, G 2014, 'Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations', Neurology, vol. 83, no. 21, pp. 1898-1905. https://doi.org/10.1212/WNL.0000000000001002
Academic Journal
Kauffman, Marcelo Andrés; Consalvo, Damián; Moron, Dolores Gonzalez; Lereis, Virginia Pujol; Kochen, Silvia
Epilepsy Research. 90(3):234-239
Academic Journal
Palomino, Laura; Velasco Rodríguez-Belvís, Marta; Casanova, María José; Leo-Carnerero, Eduardo; Calviño-Suárez, Cristina; Rivero, Montserrat; Calvo, Marta; Arroyo, María Teresa; Fernández-Clotet, Agnes; Pérez-Martínez, Isabel; Masedo González, Ángeles; Hernández, Vicent; Ruiz-Cerulla, Alexandra; López Serrano, Pilar; Vega, Pablo; Rodríguez-Lago, Iago; Lidón, Raquel Vicente; De Jorge, Miguel Ángel; Guerra, Iván; García, Lara Arias; Molina Arriero, Gema; Hervías Cruz, Daniel; Busquets, David; Gutiérrez Casbas, Ana; Van Domselaar, Manuel; Valldosera Gomis, Gemma; Vázquez Morón, Juan María; Piqueras Cano, Marta; Lucendo, Alfredo J.; Martín Arranz, María Dolores; Ramírez de la Piscina, Patricia; Martínez Tirado, María del Pilar; Robles Alonso, Virginia; Marín Pedrosa, Sandra; Camargo Camero, Raquel; Armesto Gonzalez, Edisa; Tardillo Marín, Carlos; Bernardos Martín, Esther; Rodríguez Grau, María Carmen; Huguet, José M.; Márquez-Mosquera, Lucía; Sendra Rumbeu, Pau; Bujanda, Luis; Castaño-Milla, Carlos; Sáinz Arnau, Empar; Hernández, Luis; Ramos, Laura; Boscá-Watts, M.M.; Manceñido Marcos, Noemí; Sans, Miquel; Morales, Victor Jair; Acosta, Diana; Garre, Ana; Muñoz Codoceo, Rosana; García-Salido, Alberto; Gisbert, Javier P.; Chaparro, María; Villarroya, Elvira Cañedo; de la Mano Hernández, Agustín; Andrés Esteban, Eva María; Vázquez, Sandra Hermida; Pineda, Pablo Parra; Vegue, Almudena Durán; Núñez, Andrea; de La Cruz, María Dolores; Rojas, María; de Acosta, Manuel Barreiro; Nieto, Laura; Rivas, Coral; Vera Mendoza, María Isabel; Matallana Royo, Virginia; Mateu, Belén Botella; González Partida, Irene; de Lucas, Rocío; Alfambra, Erika; Gómez, Elena Ricart; Menéndez, Sabino Riestra; de Francisco García, Ruth; García, Andrés Castaño; Carballo Folgoso, Lorena; González, Emilia Fernández; González Lama, Yago; Figueira Álvarez, Montserrat; Fernández-Poceiro, Romina; Santamaria, Ana Isabel; Sánchez-Pastor, Elena; Antón-Güell, Silvia; Pérez Calle, José L.; Regueiro Éxposito, Cristina; Yudego, Irene Moraleja; Gonzales Balseca, Mónica Belén; García, Santiago; Moros, Eva Serra; Gallego, María Sofia; Corsino, Pilar; Varela Trastoy, Pilar; Mancebo Mata, Alejo; González Fernández, Ana Cruz; Barrero, Sara; Aladren, Beatriz Sicilia; Piudo, Ana Echarri; Ollero Pena, Virginia; Torrealba, Leyanira; Menacho, Margarita; Monfort Miquel, David; Mena Sánchez, Raquel; Arranz, Eduardo Martín; Ferrer, Cristina Suárez; Cordón, Joaquín Poza; Sánchez Azofra, María; Rueda García, José Luis; Ramírez, Laura García; García-Rojas Pleite, Cristina; Ogueta Fernández, Maria Ángeles; Izquierdo, Sonia Romero; Arias, Ruth Baltar; Spicakova, Katerina; Álvarez Arias, Begoña; Pedraza Pérez, Andoni; de Mora-Figueroa, Beatriz Zúñiga; Palma, Salvadora Benito; de Guise, Claudia Herrera; Iglesias Flores, Eva; Benítez, José Manuel; Escribano, Pilar Soto; Medina, Rosario; González Rubio, Sandra; Sánchez, Javier Sola; Capilla Igual, María; Sánchez, Lucía Ruiz; Monzó Gallego, Ana; Pérez, Inmaculada Bort; Ginard Vicens, Daniel; San Miguel, Edurne Poza; Huguet, José María; Vicente, Gisela Torres; Orenga, Carmen
Clinical Gastroenterology and Hepatology.
Academic Journal
Salinas, Valeria; Martínez, Nerina; Maturo, Josefina Pérez; Rodriguez-Quiroga, Sergio A.; Zavala, Lucia; Medina, Nancy; Amartino, Hernán; Sfaello, Ignacio; Agosta, Guillermo; Serafín, Eva Maria; Morón, Dolores González; Kauffman, Marcelo A.; Vega, Patricia
European Journal of Medical Genetics. 64(12)
Academic Journal
Turnés, Juan; Forns, Xavier; Rodríguez, Raquel Souto; Pascasio, Juan Manuel; Fernández, Inmaculada; Gea, Francisco; Rosales Zabal, Jose Miguel; Torras, Xavier; Morillas, Rosa; Diago, Moises; Carrión, Jose A.; Pérez Hernández, Francisco Andrés; Hernandez-Guerra, Manuel; Delgado, Manuel; Moreno Planas, Jose María; Calleja Panero, José Luis; Prieto, Martín; Badia-Aranda, Esther; Figueruela, Blanca; de Cuenca Morón, Beatriz; Monterde, Vanesa Bernal; Baliellas, Carme; Crespo, Javier; Bonet, Lucia; Moreno, José Juan; Menéndez, Fernando; Bellot, Pau; Carmona, Isabel; Santiago, Jesús González; Fernandez-Bermejo, Miguel; Buti, Maria; Garcia-Samaniego Rey, Francisco Javier; Salmerón, Javier; Fernández-Rodríguez, Conrado; De la Vega, Juan; Escudero-García, Desamparados; Arenas, Juan; a<%2Fce%3Asup>+Dolores">Anton Conejero, MD'Alessio, Luciana ; Kochen, Silvia
Epilepsy Research. August, 2009, Vol. 85 Issue 2-3, p231, 4 p.
Academic Journal
Rodríguez-Quiroga, Sergio A.; Rosales, Julieta; Arakaki, Tomoko; Cordoba, Marta; González-Morón, Dolores; Medina, Nancy; Garretto, Nélida S.; Kauffman, Marcelo A.
Parkinsonism and Related Disorders. 21(11):1375-1377
Academic Journal
Córdoba, Marta; Rodríguez Quiroga, Sergio Alejandro; Gonzalez Moron, Dolores; Medina, Nancy; Kauffman, Marcelo Andres
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
Consejo Nacional de Investigaciones Científicas y Técnicas
Academic Journal
Molecular Biology Reports: An International Journal on Molecular and Cellular Biology. December 2012 39(12):10615-10619
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