학술논문
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'학술논문'
에서 검색결과 46건 | 목록
1~20
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
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 ; 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
Córdoba, Marta ; González Morón, Dolores ; Rodríguez-Quiroga, Sergio Alejandro ; Kauffman, Marcelo Andrés
In Neurología Argentina July-September 2014 6(3):127-136
Academic Journal
Casalia, Mariana L.; Casabona, Juan Cruz; García, Corina; Cavaliere Candedo, Verónica; Quintá, Héctor Ramiro; Farías, María Isabel; Gonzalez, Joaquín; Gonzalez Morón, Dolores; Córdoba, Marta; Consalvo, Damian; Mostoslavsky, Gustavo; Urbano, Francisco J.; Pasquini, Juana; Murer, Mario Gustavo; Rela, Lorena; Kauffman, Marcelo A.; Pitossi, Fernando J.
Academic Journal
Gonzalez Moron, Dolores; Azcona, Carolina; Rodriguez Quiroga, Sergio; Vega, Patricia; Kauffman, Marcelo Andres
In Neurología Argentina January-March 2024 16(1):49-50
Book
In Precision Medicine for Investigators, Practitioners and Providers 2020:135-141
In Neurología Argentina January-March 2016 8(1):44-47
Zubiri, Victoria ; Gerardi, Omar ; Medina, Nancy ; Taratuto, Ana Lia ; Huamanchumo Fiestas, Janina ; Lopez, Matias ; Aldinio, Victoria ; Gargiulo, Guadalupe ; González Morón, Dolores ; Córdoba, Marta ; Rodríguez Quiroga, Sergio A. ; Volman, Gabriel ; Kauffman, Marcelo A. ; Uccelli, Aquiles
In Neurología Argentina July-September 2015 7(3):171-175
Academic Journal
Salinas, Valeria; Martinez, Nerina; Perez Maturo, Josefina; Rodriguez-Quiroga, Sergio A.; Zavala, Lucia; Medina, Nancy; Amartino, Hernan; Sfaello, Ignacio; Agosta, Guillermo; Serafin, Eva Maria; Gonzalez Moron, Dolores; Kauffman, Marcelo A.; Vega, Patricia
Academic Journal
Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M. L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando, I; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard, I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole, I; Bernard, Genevieve
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
Córdoba, Marta; Consalvo, Damian; González Morón, Dolores; Kochen, Sara Silvia; Kauffman, Marcelo Andres
Molecular Biology Reports. 39:10615-10619
Academic Journal
Kauffman, Marcelo Andres; González Morón, Dolores; Consalvo, Damian; Westergaard, Gaston; Vazquez, Martin Pablo; Mancini, Estefania; Taratuto, Ana Lia; Rey, Raul C.; Kochen, Sara Silvia
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
Consejo Nacional de Investigaciones Científicas y Técnicas
Academic Journal
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
Consejo Nacional de Investigaciones Científicas y Técnicas
Academic Journal
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
Consejo Nacional de Investigaciones Científicas y Técnicas
Academic Journal
Dis Markers
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
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
Salinas Calderon, Valeria Macarena; Vega, Liliana Patricia; Piccirilli, María Victoria; Chicco, Carla; Ciraolo, Carlos; Christiansen, Silvia Beatriz; Consalvo, Damian; Perez Maturo, Josefina; Medina, Nancy; González Morón, Dolores; Novaro, Virginia; Perrone, Maria Cecilia; García, María del Carmen; Agosta, Guillermo; Silva, Walter; Kauffman, Marcelo Andres
European Journal of Medical Genetics. 62:103571
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[AR] Gonzalez Moron, Dolores
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