학술논문
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'학술논문'
에서 검색결과 112건 | 목록
1~20
Academic Journal
Cristian Camilo Villa Gómez; Camilo Hernández Ortiz; Julio Andrés Boda Garnica; Omar Andrés Olea Muñoz; Daniela Giraldo Restrepo; Angie Marcela Pérez Pinto; Marlon Andrés David Orrego; Luisa Fernanda Herrera Aguirre; Gustavo Adolfo Serrano Baez
Iberoamerican Journal of Medicine, Vol 7, Iss 3, Pp 86-92 (2025)
Academic Journal
Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Bagłaj, Maciej; Bofferding, Leon; Bosanko, Katherine B.; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D.; Harr, Margaret H.; Heck, Sandra; Hurst, Anna C.; Jhangiani, Shalini N.; Isidor, Bertrand; Littlejohn, Rebecca O.; Liu, Pengfei; Magoulas, Pilar; Mar Fan, Helen; Marom, Ronit; McLean, Scott; Nezarati, Marjan M.; Nugent, Kimberly M.; Petersen, Michael B.; Linda Rocha, Maria; Roeder, Elizabeth; Smigiel, Robert; Tully, Ian; Weisfeld-Adams, James; Wells, Katerina O.; Genomics, Baylor-Hopkins Center for Mendelian; Posey, Jennifer E.; Lupski, James R.; Beaudet, Arthur L.; Wangler, Michael F.
Assia Batzir, N, Kishor Bhagwat, P, Larson, A, Coban Akdemir, Z, Bagłaj, M, Bofferding, L, Bosanko, K B, Bouassida, S, Callewaert, B, Cannon, A, Enchautegui Colon, Y, Garnica , A D, Harr, M H, Heck, S, Hurst, A C, Jhangiani, S N, Isidor, B, Littlejohn, R O, Liu, P, Magoulas, P, Mar Fan, H, Marom, R, McLean, S, Nezarati, M M, Nugent, K M, Petersen, M B, Linda Rocha, M, Roeder, E, Smigiel, R, Tully, I, Weisfeld-Adams, J, Wells, K O, Genomics, B-H C F M, Posey, J E, Lupski, J R, Beaudet, A L & Wangler, M F 2020, 'Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy', Human Mutation, vol. 41, no. 3, pp. 641-654. https://doi.org/10.1002/humu.23960
Academic Journal
Lam, Christina ; Golas, Gretchen A. ; Davids, Mariska ; Huizing, Marjan ; Kane, Megan S. ; Krasnewich, Donna M. ; Malicdan, May Christine V. ; Adams, David R. ; Markello, Thomas C. ; Zein, Wadih M. ; Gropman, Andrea L. ; Lodish, Maya B. ; Stratakis, Constantine A. ; Maric, Irina ; Rosenzweig, Sergio D. ; Baker, Eva H. ; Ferreira, Carlos R. ; Danylchuk, Noelle R. ; Kahler, Stephen ; Garnica, Adolfo D. ; Bradley Schaefer, G. ; Boerkoel, Cornelius F. ; Gahl, William A. ; Wolfe, Lynne A.
In Molecular Genetics and Metabolism June-July 2015 115(2-3):128-140
Academic Journal
Tanaka, Akemi J.; Cho, Megan T.; Millan, Francisca; Juusola, Jane; Retterer, Kyle; Joshi, Charuta; Niyazov, Dmitriy; Garnica, Adolfo; Gratz, Edward; Deardorff, Matthew; Wilkins, Alisha; Ortiz-Gonzalez, Xilma; Mathews, Katherine; Panzer, Karin; Brilstra, Eva; Van Gassen, Koen L I; Volker-Touw, Catharina M L; van Binsbergen, Ellen; Sobreira, Nara; Hamosh, Ada; McKnight, Dianalee; Monaghan, Kristin G.; Chung, Wendy K.
The American Journal of Human Genetics. 97:457-464
Academic Journal
Sellars, Elizabeth A., MD; Bosanko, Katherine A., MS; Lepard, Tiffany, MS; Garnica, Adolfo, MD; Schaefer, Gerald Bradley, MD
Seminars in Pediatric Neurology. 21(2):84-87
Academic Journal
Zarate, Yuri A.; Shur, Natasha; Robin, Andrew; Garnica, Adolfo D.; Quintos, Jose Bernardo; Schaefer, G. Bradley
Journal of Pediatric Endocrinology and Metabolism. 27(9-10):951-955
Academic Journal
Liu, Pengfei; Erez, Ayelet; Nagamani, Sandesh C. Sreenath; Dhar, Shweta U.; Kołodziejska, Katarzyna E.; Dharmadhikari, Avinash V.; Cooper, M. Lance; Wiszniewska, Joanna; Zhang, Feng; Withers, Marjorie A.; Bacino, Carlos A.; Campos-Acevedo, Luis Daniel; Delgado, Mauricio R.; Freedenberg, Debra; Garnica, Adolfo; Grebe, Theresa A.; Hernández-Almaguer, Dolores; Immken, LaDonna; Lalani, Seema R.; McLean, Scott D.; Northrup, Hope; Scaglia, Fernando; Strathearn, Lane; Trapane, Pamela; Kang, Sung-Hae L.; Patel, Ankita; Cheung, Sau Wai; Hastings, P.J.; Stankiewicz, Paweł; Lupski, James R.; Bi, Weimin
Cell. 146:889-903
Academic Journal
Nikos C. Secchi-Nicolás; Fernando J. Lavalle-González; Juan C. Garnica-Cuellar; Abel A. Pavía-López; José L. Mayorga-Butrón; Juan C. Anda-Garay; Rodolfo Rincón-Pedrero; Manuel Duarte-Vega; Edgar Dehesa-López; Ramón J. Barrera-Cruz; José A. Álvarez-López; Jorge Aldrete-Velasco; Cintia P. Sánchez-Hernández; Zaira Medina-López; Rubén A. Gómez-Mendoza; Gabriela Borrayo-Sánchez; José M. Enciso-Muñoz; Carlos A. Hinojosa-Becerril; Margarita Torres-Tamayo; Jorge Cossio-Aranda; Adolfo Chávez-Negrete; Rodrigo Lozano-Corona; Rafael Barraza-Félix; Salvador Ocampo-Peña; Mónica Tapia-Hernández; Ricardo Correa-Rotter; Luis Dávila-Maldonado; Marco A. Figueroa-Morales; Bertha B. Montaño-Velázquez; Liliana Velasco-Hidalgo; Ana L. Rodríguez-Lozano; Felipe Romero-Moreno; Claudia Pimentel-Hernández; Mario Rodríguez-Vega; Ángel J. Gómez-Alarcón
Revista Mexicana de Endocrinolog�a, Metabolismo y Nutrici�n. 10
Book
Díaz Raga, Hugo Hernando; Reyes Umaña, Luz Aurora; Camacho León, Claudia Patricia; Romero Dávila, Natalia Andrea; Cruz Casallas, Nubia Estella; Triana Pérez, Ángel Alberto; Espinal Soto, Diana Marcela; Puerta Sarria, Gloria Luz; Moreno Ortega, Pablo Emilio; Mutumbajoy Chindoy, Luz Herminda; Jiménez, Diana; Rey Vásquez, Elías Manaced; Rojas Gutiérrez, Saúl Eduardo; Aguirre Hernández, María Verónica; Perdomo Vanegas, William Leonardo; Rodríguez Guarín, Queila Yanire; Villafañe Bermúdez, Irina; López Jiménez, Claudia Liliana; Utrera Reyes, Carlos Humberto; Monsalve, Isabel; Mosquera Tapiero, Mileida; Perdomo Vargas, Iván Ricardo; González Rincón, Leidy Diana; Velásquez Bonilla, Néstor Javier; García Díaz, John Jairo; Buitrago Urbina, Leidy Milena; Villalobos Ardila, Karol Johana; Ibarra Caicedo, Marcia Xiomara; Duque Valencia, María Piedad; Villa Guerrero, Katherine; Maldonado Pinzón, Dina Sofía; Sánchez Torres, Farid; Hernández Duarte, Wilder Alfonso; Arias Bravo, Paola Andrea; Acosta Salazar, Hadder Uriel; Hernández Espinosa, Yuri Paola; Orejarena Silva, Héctor Andrés; Peterson Romero, Vivian; Campos Milque, Yenny Liliana; Arrieta Valderrama, Edwin Javier; González Castaño, Alexander; Gutiérrez Bernal, Luis Gabriel; Parra Guarnizo, José Alirio; Orjuela, Iván Darío; Becerra Ostos, Luisa Fernanda; Ezequías Día, Guillermo; Mejía Restrepo, Juan Carlos; Monsalve, Mario Lora; Ortiz, Camilo; Osorio Vasco, Jonathan; Bernal, Karen; Ahumada Villafañe, Irlena; Palacio Angulo, José; Salas Zapata, Leonardo; Serrano, Claudia; Silva Ricaurte, Angélica Judith; Pérez Cabrera, María Margarita; Valenzuela, Antonio Mauricio; Andrade Restrepo, Lina María; Rincón Cortés, Marcela Leticia; Rico Fontalvo, Heidy Margarita; Jaimes Delgado, Pedro Emilio; Jiménez Rodríguez, Ericka Alexandra; Cuellar Solís, Maira Alejandra; Rojas, Deicy; Rivera Gallo, Angie Vanessa; Pérez Silva, Carlos Arturo; Checa, Pedro Camilo; Masmela Olivar, Rodrigo; Medina, Julieth Camila; Fajardo Fajardo, Leydy Laura; Rozo Silva, Yenny Andrea; Rodríguez, Luis; Rico Otalora, Byron Armando; Gómez Mutis, Sergio Andrés; Díaz Uribe, Carlos Alonso; Malagón, Alexandra; Salazar Castañeda, Elkin Sawbuer; Salcedo Mojica, Jesús; Rivera, Luis Eduardo; Rosero Toro, Jeison Herley; Castillo Algecira, Marcela Patricia; Pérez Olmos, Liliana Margarita; Ariza Ruiz, Efrén Danilo; Peralta Miranda, Pabla Eusebia; Hernández Girón, Sonia Elizabeth; Quintero Rengifo, Edward Ferney; Zuluaga Giraldo, Bibiana Andrea; Montoya Arévalo, Nelson Leonardo; Giraldo Patiño, Claudia Lorena; Posada Melendrez, Raúl Alfredo; Rodríguez Darabos, Emma Isabel; Manrique Ruiz, Gustavo Adolfo; Sánchez Pirabán, Edna Melissa; Rubio Florido, Isabel; Rodríguez Rodríguez, Mayra Alejandra; Taboada Álvarez, Jorge Enrique; Rojas, Saúl; Merchán Rangel, Nancy; Domínguez Chamorro, Anderson; Ramón, David; Castro Rozo, Sandra Paola; Rueda Castillo, Nelma Alexandra; Conejo Carrasco, Francisco; Martínez Arévalo, Mónica; Ortiz Bernal, Jorge Alexander; Bautista Hernández, César Augusto; Rocha Álvarez, Cristian Alexander; Neira Parra, Jacqueline; Cerón Patío, Ángela María; Corredor García, María del Pilar; Barreto Nieto, Balvino Alfonso; Avilán Torres, Julieth Johanna; Jiménez Quintero, Ana Milena; Aguirre Cardona, Leonardo Andrés; Restrepo Toro, Natalia; Puerto Rodríguez, Edwin Alberto; Suárez Rojas, Myriam Soraya; Sánchez Celis, Élver; Suárez Molina, Verónica Johana; Aguirre Martínez, Camilo; Mora Jaramillo, Yohana Andrea; Muñoz González, Alix Vanessa; Rodríguez Sierra, Astrid Viviana; Moreno Gómez, Elizabeth; Rodríguez Oliveiros, Fabián Hernando; García Noguera, Luis Juan Carlos; Mateus Sánchez, Jairo Enrique; Limo Vásquez, Miguel Ángel; Vélez Restrepo, Sebastián; Saray Rodríguez, Laura Marcela; Peña Garnica, Diego Fernando; Acuña Gil, Maritza; Isaza Zuleta, Carolina; Palacios Mazabe, Natalia; Moreno Hurtado, Johan Sebastián; Jiménez Reye, Katherine; Vélez López, Sandra Viviana; Rodríguez Quiñónez, Diana Alexandra; Cardozo Cifuentes, Claudia Patricia; Grisales Rincón, Diana Clemencia; Trejos Trejos, Rosalba; Tarazona Galán, Héctor Orlando; Jiménez Reyes, Katherine; Almeida Salinas, Orlando
Academic Journal
Kyle A. Metz; Xinchen Teng; Isabelle Coppens; Heather M. Lamb; Bart E. Wagner; Jill A. Rosenfeld; Xianghui Chen; Yu Zhang; Hee Jong Kim; Michael E. Meadow; Tim Sen Wang; Edda D. Haberlandt; Glenn W. Anderson; Esther Leshinsky‐Silver; Weimin Bi; Thomas C. Markello; Marsha Pratt; Nawal Makhseed; Adolfo Garnica; Noelle R. Danylchuk; Thomas A. Burrow; Parul Jayakar; Dianalee McKnight; Satish Agadi; Hatha Gbedawo; Christine Stanley; Michael Alber; Isabelle Prehl; Katrina Peariso; Min Tsui Ong; Santosh R. Mordekar; Michael J. Parker; Daniel Crooks; Pankaj B. Agrawal; Gerard T. Berry; Tobias Loddenkemper; Yaping Yang; Gustavo H. B. Maegawa; Abdel Aouacheria; Janet G. Markle; James A. Wohlschlegel; Adam L. Hartman; J. Marie Hardwick
Annals of Neurology, vol 84, iss 5
Academic Journal
Nicola, Brunetti-Pierri; Jonathan S, Berg; Fernando, Scaglia; John, Belmont; Carlos A, Bacino; Trilochan, Sahoo; Seema R, Lalani; Brett, Graham; Brendan, Lee; Marwan, Shinawi; Joseph, Shen; Sung-Hae L, Kang; Amber, Pursley; Timothy, Lotze; Gail, Kennedy; Susan, Lansky-Shafer; Christine, Weaver; Elizabeth R, Roeder; Theresa A, Grebe; Georgianne L, Arnold; Terry, Hutchison; Tyler, Reimschisel; Stephen, Amato; Michael T, Geragthy; Jeffrey W, Innis; Ewa, Obersztyn; Beata, Nowakowska; Sally S, Rosengren; Patricia I, Bader; Dorothy K, Grange; Sayed, Naqvi; Adolfo D, Garnica; Saunder M, Bernes; Chin-To, Fong; Anne, Summers; W David, Walters; James R, Lupski; Pawel, Stankiewicz; Sau Wai, Cheung; Ankita, Patel
Nature Genetics. 40:1466-1471
Academic Journal
Juan José Cortez-Escalante; Aline Marques dos Santos; Giovanna de Curcio Garnica; Ana Lucia Sarmento; Cleudson Nery de Castro; Gustavo Adolfo Sierra Romero
Revista da Sociedade Brasileira de Medicina Tropical, Vol 45, Iss 3, Pp 407-409 (2012)
Academic Journal
Trilochan, Sahoo; Daniela, del Gaudio; Jennifer R, German; Marwan, Shinawi; Sarika U, Peters; Richard E, Person; Adolfo, Garnica; Sau Wai, Cheung; Arthur L, Beaudet
Nature Genetics. 40:719-721
Academic Journal
Brunetti-Pierri, Nicola; Berg, Jonathan S.; Scaglia, Fernando; Belmont, John; Bacino, Carlos A.; Sahoo, Trilochan; Lalani, Seema R.; Graham, Brett; Lee, Brendan; Shinawi, Marwan; Shen, Joseph; Kang, Sung-Hae L.; Pursley, Amber; Lotze, Timothy; Kennedy, Gail; Lansky-Shafer, Susan; Weaver, Christine; Roeder, Elizabeth R.; Grebe, Theresa A.; Arnold, Georgianne L.; Hutchison, Terry; Reimschisel, Tyler; Amato, Stephen; Geragthy, Michael T.; Innis, Jeffrey W.; Obersztyn, Ewa; Nowakowska, Beata; Rosengren, Sally S.; Bader, Patricia I.; Grange, Dorothy K.; Naqvi, Sayed; Garnica, Adolfo D.; Bernes, Saunder M.; Fong, Chin-To; Summers, Anne; Walters, W. David; Lupski, James R.; Stankiewicz, Pawel; Cheung, Sau Wai; Patel, Ankita
Nature Genetics. December, 2008, Vol. 40 Issue 12, p1466, 6 p.
Academic Journal
Seminars in Pediatric Neurology. 26:50-51
Academic Journal
Stoll, Rodolfo Gustavo; Barral, Jorge Raúl; Garnica, Javier Hernán; Lucchini, Juan Martín; Iriarte, Adolfo Antonio
SEDICI (UNLP)
Universidad Nacional de La Plata
instacron:UNLP
Universidad Nacional de La Plata
instacron:UNLP
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[검색어] Garnica, Adolfo
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