학술논문
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'학술논문'
에서 검색결과 521건 | 목록
1~20
Academic Journal
Grau, Brayan; Kormos, Rian; Bañó-Polo, Manuel; Chen, Kehan; García-Murria, María J.; Hajredini, Fatlum; Sánchez del Pino, Manuel M.; Jo, Hyunil; Martínez-Gil, Luis; von Heijne, Gunnar, 1951; DeGrado, William F.; Mingarro, Ismael
Science Advances. 11(8)
Academic Journal
Medina-Zazueta, Luis; Romo-García, Frank; Martínez-Gil, Miguel; Flores-Ochoa, Rolando; Martinez-Gil, Mathías; Berman-Mendoza, Dainet; Ramos-Carrazco, Antonio; Valenzuela-Hernández, Gerardo; Salas-Juárez, Ch. J.; Pérez-Rábago, Carlos A.; García-Gutiérrez, Rafael
Crystals. January, 2026, Vol. 16 Issue 1
Academic Journal
Martínez-Gil, N.; Herrera-Ubeda, C.; Gritti, N.; Roca-Ayats, N.; Ugartondo, N.; Garcia-Giralt, N.; Ovejero, D.; Nogués, X.; Garcia-Fernàndez, J.; Grinberg, Daniel; Balcells, Susanna
Scientific Reports. 15(1)
Academic Journal
Patiño-Salazar, J. D.; Ovejero, D.; Gabernet, M.; Martínez-Gil, N.; Alcaide-Consuegra, E.; Mellibovsky, L.; Nogués, X.; Grinberg, D.; Balcells, S.; Rabionet, R.; Garcia-Giralt, N.
Osteoporosis International: With other metabolic bone diseases. 36(4):637-644
Academic Journal
Martínez Gil-Ortega, A.; Paz-Cortés, M. M.; Viñas, M. J.; Cintora-López, P.; Martín-Vacas, A.; Gil, J.; Aragoneses, J. M.
Bioengineering. September, 2025, Vol. 12 Issue 9
Book
Aguilar García-Iturrospe, Eduardo; Agustín Panadero, Rubén; Alberola Aguilar, Antonio; Albizua, Gorka; Alfaro Cervelló, Clara; Alfosea-Cuadrado, Gloria M.; Alonso, Eulalia; Aloy-Prosper, Amparo; Amengual Lorenzo, José; Arenas, Yaiza; Atiénzar Navalón, Lucía; Aura, Juan Ignacio; Balanzá Martínez, Vicent; Barberá, Joan Albert; Bellot Arcís, Carlos; Bellver Pradas, Francisco; Benavent Rodríguez, Pilar; Bernabeu Mira, Juan Carlos; Blasco-Ausina, M. Carmen; Blasco-Serra, Arantxa; Bohigues, Asbel; Boo Gordillo, Paula; Cabezas-Rivas, Esther; Calabuig Fariñas, Silvia; Calvo Saiz, Conrado J.; Cantillo Lucuara, Mayron Estefan; Canut Barona, Mercedes; Carrasco Picazo, Juan Pablo; Casanova, Pablo; Casanova Querol, Pilar; Cases-Sánchez, Ana; Castelló Ponce, Ana; Domene-Benito, Rocío; Donato, Teresa; Etxeandia Pradera, Jon Iñaki; Fernández-Estevan, Lucía; Ferrández Izquierdo, Antonio; Folguera, Sofía; Fons Badal, Carla; Fons Font, Antonio; Forner Navarro, Leopoldo; Fortea, Jerónimo; Francés, Clara; Fuster, Isabel; Fuster-Torres, M. Ángeles; Galán Albiñana, Amparo; Gandía Franco, José Luis; García Giménez, José Luis; García-Miralles, Esther; García Sanz, Verónica; Gimeno-Monrós, Amparo; Giner Segura, Francisco; Girbés-Balleste, Paula; Gomecello Mas, Gemma; Gómez-Cabrera, Carmen; Gómez-Vera, Adelaida; Gonzáles de Cossio, Inés; González Cabo, María Pilar; González Marrachelli, Vannina; González Piqueras, José Carlos; González-Angulo, Eva; González-Navarro, Herminia; González-Soler, Eva M.; Granados Aparici, Sofía; Granda Piñán, Amelia Rosa; Grau Vidal, Roser; Guardiola García, Javier; Guerra, Solanye; Guillén Domínguez, Marisa; Haro-Estévez, José Francisco; Hermenegildo, Carlos; Herrero, M. José; Higueras-Villar, Cynthia; Ibáñez, Xavier; Iranzo Tatay, Carmen; Iranzo-Cabrera, María; Jiménez-Martí, Elena; Labaig Rueda, Carlos; Lisón-Párraga, Juan Francisco; Llena Puy, María Carmen; Marqués Martínez, Laura; Martínez, Beatriz; Martínez Asunsolo, Gemma; Martínez García, Fernando; Martínez Raga, José; Martínez-Bellver, Sergio; Martínez-Gil, Natalia; Martínez-Usarralde, María Jesús; Martín-Grau, María; Martorell-Calatayud, Luis; Mauricio, M. Dolores; Mayordomo Aranda, Empar; Medina, Nitza; Medina, Pascual; Megías, Javier; Melo Almiñana, María Pilar; Monleón Salvado, Daniel; Monteagudo Castro, Carlos; Montoliu, M. Carmen; Morales Tatay, José Manuel; Moreno-Torres, Marta; Movellán Luis, Mireia; Muñoz Hidalgo, Lisandra; Narro, Ángel; Navarro Fos, Samuel; Navarro Lucas, Rafael; Navarro Noguera, Andrea; Noguera Salvá, Rosa; Novella, Susana; Olaso-Gonzalez, Gloria; Ortiz Zapater, Elena; Orzáez, Mar; Palanca, Sarai; Panadero Valero, Susana; Pardo-Bellver, Cecília; Pardo-Tendero, Mercedes; Paredes Gallardo, Vanessa; Peñarrocha-Diago, David; Peñarrocha-Diago, María; Peñarrocha-Diago, Miguel; Peñarrubia-Martínez, Lucía; Pérez Lambás, Fernando; Pérez-Cremades, Daniel; Piqueras Franco, Marta; Rocha Correal, Geraldine; Roig Vanaclocha, Ana; Rojo Bofill, Luis Miguel; Romá-Mateo, Carlos; Romero-Millán, Javier; Ros, Isabel; Saiz Alarcón, Vanessa; Salazar, Irene; San Miguel Díez, Teresa; Sánchez-Zuriaga, Daniel; Santonja López, Nuria; Sapena, Miguel Juan; Segarra, Gloria; Serna, Eva; Serra Pastor, Blanca; Sierra San Miguel, Pilar; Singh Kaur, Harpreet; Solá Ruiz, Maria Fernanda; Suay Matallana, Ignacio; Tarazona Álvarez, Beatriz; Valls, Alicia; Valverde-Navarro, Alfonso A.; Verdejo, Begoña; Viña, José; Vivas Consuelo, Andrés; Zamora Martínez, Natalia; Zaragozá-Colom, Rosa
RODERIC. Repositorio Institucional de la Universitat de València
instname
instname
Academic Journal
Garber A; Department of Pediatrics, Columbia University, New York, New York, USA.; Weingarten LS; Department of Pediatrics, Columbia University, New York, New York, USA.; Abreu NJ; Department of Neurology, NYU Grossman School of Medicine, New York, New York, USA.; Elloumi HZ; GeneDx, Gaithersburg, Maryland, USA.; Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hildebrant C; Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina, USA.; Martínez-Gil N; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Mathews J; Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina, USA.; Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Valenzuela Palafoll I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Steigerwald C; Department of Neurology, NYU Grossman School of Medicine, New York, New York, USA.; Chung WK; Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Pérez Rivera, Carlos J.; Lozano-Suárez, Nicolás; Agudelo-Mendoza, Silvia Valentina; Bohórquez-Tarazona, Maria Paz; García-Zambrano, Laura; Lara-Espinosa, Daniela; Polania-Sandoval, Camilo Andres; Rojas-Serrano, Luisa Fernanda; Vargas-Cuéllar, María Paula; Velandia-Sánchez, Alejandro; Cabrera-Rivera, Paulo Andrés; Briceno-Ayala, Leonardo; Cruz-Reyes, Danna; Barrera Carvajal, Juan Guillermo; Cabrera-Vargas, Luis Felipe; Guevara, Oscar; Arce Polania, Laura Cristina; Buendía Barrios, Laura Natalia; Cristina Camargo Areyanes, María Isabel; Casas, Felipe; Alfaro, Valeria Cormane; García-Méndez, Juan P.; Guerra, Bayron; Idarraga-Ayala, Sharon V.; Abiyomaa, Akram Kadamani; Montoya, Christopher; Mosquera Paz, Manuel Santiago; Pineda, María Alejandra; Pinzón-Luna, Juliana; Bastidas, Isabella Roa; Roman Ortega, Carlos Fernando; Saavedra Henao, Juan D.; SanJuan-Arias, Laura Carolina; Barreto, Vanessa; Corso, Julian; Maksoud-Garcia, Mariana; Mateus, Eliana Pineda; Zabaraín, Alejandra Vega; Mantilla-Sylvain, Fabien; Perez, Nicolas; Alzate-Ricaurte, Sergio; Bejarano, Monica; Caicedo Holguin, Isabella; García, Alberto Federico; Sanchez, Stefania Rodriguez; Santos, Felipe Bernal; Jaspe, Carlos Luna; Maria Camila Luna-Jaspe Roa; OLIVERA Bolívar, Maria Paula; Diaz, MariaFernanda Valdivieso; Agudelo, Yuli; Castillo-Aristizábal, Maria Paula; Hoyos Burgos, Juan Pablo; Maria Clara Mendoza Arango, Maria Clara; Gabriel Arroyave; Preciado, Felipe Buitrago; Cardona González, Lina María; Correa-Cote, Juan Camilo; Franco Arias, Karen Lorena; Llano Sierra, Juan Felipe; López, Gustavo; Mancero, Cesar; Parra, Sebastian; Gonzalez, Beatriz Ramirez; Daniela Sierra; Amaya Muñoz, Maria Camila; Blanco-Ramírez, Ashley; Camacho, Paul Anthony; Campillo, Jorge; Carvajal Mejia, Andrea Ximena; María Alejandra González Yamil; Osorno Villegas, Juan Carlos; Eduardo Rubio; Herrera, Santiago Sánchez; Herrera, Sebastian Sanchez; Agudelo, Tatiana; Andrade, Valentina; Pérez, Laura Arango; Ariza-Gutiérrez, Anibal; Jacobo Berrio; Torres, Natalia Cantillo; Chamorro-Rodríguez, Maria Valeria; Conde, Lucia; Feo Lee, Oscar Hernando; González Nieto, María Camila; Ibañez-Pintor, Laura Cecilia; Ochoa, Catalina; Ospina, Juan; Pérez-Ocampo, Juan José; Rojas, Esteban Portilla; Rey, Daniela Saaibi; Serrano, Eduardo; Solorza Velásquez, Sharon Michelle; Toro Cubides, Angélica María; Aguiar, Raúl; Beltrán Rincón, Diego Armando; Figueroa, Juan Sebastian; Figueroa-Casanova, Rafael; Gonzalez Mosos, Maria Fernanda; Marcia Gabriela Gómez; Osorno, Susana; Laura Palacio, Laura; Venegas, Jose; Caicedo Ramírez, Liliana Marcela; Cardona Gomez, Diana Catalina; Alejandro Fernandez Bolaños, Daniel; Fernández-Diago, Adriana; Olave Montaño, Victor David; Pastás, César; Amorocho, Silvia Marcela; Barbosa-Santibañez, Jorge; Baron, Vladimir; Cartagena-Alvarado, Alejandra; Castillo, Maria; Castillo-Florez, Maria Carolina; Dimian Mayorga, Omar David; Delgado-Nieto, Elena Leonor; Fajardo, Ernesto; Gomez Polania, Omar Leonardo; Gonzalez, Tania; Guzman Mesa, Daniel Felipe; Isaza-Restrepo, Andres; Leal, Jaime A.; Medina, Camilo; Navarro-Alean, Jorge; Ocampo, Maria Antonia; Oliveros, Guillermo; Ortiz, Maria; Ortiz-Mahecha, Jorge I.; Abaunza, Katherine Parra; Pulido Reyes, Felipe Antonio; Rivera-Rincón, Natalia; Carlos Alfonso Rodriguez Pinedo; Sanchez, Lizeth Rodriguez; Romero, Juan Javier; Sabogal Olarte, Juan Carlos; Salgado Tovar, Javier Mauricio; Torres, Guillermo Andrés; Vallejo, Linda; Vargas-Barato, Felipe; Vargas Patiño, Ana María; Villate León, Juan Pablo; Montañez Aldana, Miguel Angel; Norato, Chiara; Borda, Hugo Rojas; Núñez, Miguel Á Romero; Sánchez, Alejandro; López, Jose Támara; Támara P, Jose; Wilmer Fernando Botache Capera; Rojas, Rolando Medina; Juan Torres; Trujillo, Gina Catalina; Cubillos Saavedra, Gabriela Estefanía; Francisco García-Laverde; Naffah Enciso, Jussef Camilo; Betancur, Julian Arango; Cortés-Coronado, Adriana; Susana Sepúlveda Tamayo; Cardenas, Valentina Arboleda; García-Barrero, Luis Guillermo; Jhonatan Enrique Garzón-Galindo; Torres Parada, Lina Fernanda; Quintero, Alejandro Arias; Cano, David; Montoya Quintero, Kevin Fernando; Santiago Nieto Muñoz; Mejía, Paula Saza; Gomez Barrios, Jesus David; Jimeno, María Angélica; Restrepo Hernandez, Ghandi Ignacio; Rodríguez-Sequea, Adrian; Varón Cotes, Juan Carlos; Hanner Enrique Acevedo Reyes; Barandica Bolaño, Claudia Marcela; Sierra-Cote, Maria Camila; Angarita Vargas, Laura Daniela; Báez Ramírez, Alix Yurany; Rodriguez Suarez, Jose Armando; Sánchez, David Leonardo; Sandoval Rangel, Silvia Natalia; Hurtado, Edwin Ulloa; Hernández Almanza, Olga Esther; Martínez Zubiria, Rosalba Inmaculada; Muegues Salas, Angel Alexis; Becerra Cardona, Diego Alexander; Cárdenas Santamaría, Fabio Hernán; Echeverri Castaño, Juan Daniel; Echeverri Uribe, Juan Sebastián; Gaitán Buitrago, María Helena; Galvis Valencia, Luis Felipe; Sabogal, Andrea Henao; López Atehortúa, David Felipe; Molina Uribe, Juan Manuel; Peñate Suárez, Edwin Enrique; Valencia, Heiller Torres; Salazar, Marcela Velásquez; Correa, Catalina; García, Hans; Leal, Juan Hernández; Muñoz Vargas, Paula Tatiana; Bolívar Sáenz, Dínimo José; Caicedo Medina, Camilo Andrés; Garcia Riaño, Camilo Andres; Gonzalez, Stephanye Carrillo; Gómez, Jaime Lorduy; Madrid, Carlos Torres; Villa, Walter Torres; Luengas Orozco, Juan Sebastian; Capriles, Camilo Avendaño; Blanco, Carolina Diaz; Brieva Hoyos, Maria Lucía; Cantillo Moreno, Paola Andrea; Granados Mendoza, Sofía Carolina; Vizcaino Lara, José Dario; Babativa Peñuela, Karla Lizeth; Jiménez Bahamón, Paula Andrea; Maldonado Rico, Jhonier Estiven; Martínez Cortes, Duvan Ernesto; Orjuela Aragón, José Alfredo; Castro Roa, Lizeth Daniela; Gallego, Julieth Sarmiento; Herazo Meza, Marta Maria; Hernández Castillo, Anlly Caterin; Rojas Moncada, Rosa Gabriela; Casanova Bermeo, Lucia Fernanda; Cortés Otero, Oscar Fernando; Pinilla, Nicolás Diaz; Herrera Delgado, Harrison Rene; Macías Segura, Simon Alberto; Muñoz Castrillón, David Ramiro; Nuñez Romero, Luis Ramiro; Polania Andrade, Cesar Andrés; Valdez Toro, Hector Alejandro; Cardozo Parrado, Ana María; Moros, Jose Gonzalo; Nieto, Paula Andrea; Patarroyo, Jorge Mario; Perilla Martínez, Jose Luis; Gutierrez, María del Pilar Torres; Benito Flórez, Erika Johana; Gómez, Mariana Vergel; Robayo Rodriguez, Diana Ximena; Salcedo Miranda, Diego Fernando; Triviño Cortés, Maria Alejandra; Sastre, William Baquero; Bonett, Juan Sebastian; Cortes, Eliana; Duque, Pedro Fernando; Gutierrez, Carlos Enrique; Echeverry, Piedad; Motta Amar, Andrés Felipe; Torres, Lorena; Bautista, Jeremias Carvajal; Figueroa Bohórquez, David Mauricio; Quintana, Manuel Latorre; Olivera Briñez, Diego Fernando; Quintero Contreras, Marcel Leonardo; Gamboa, Raúl Vera; Zapata, Mariana Arias; Benavides Caipe, Cristhian Daniel; Betancur Acevedo, Luisa Fernanda; Zuluaga, Valentina Botero; Figueroa-Espinoza, Vanessa; Londoño-Patiño, Arbey Leandro; Moncayo-Gonzalez, Santiago; Puerta Suárez, Laura Sofia; Vargas-Arboleda, Paula Camila; Gonzalez Cera, Lisbet Sofia; Toro, Katerine Henao; de Jesus Ortiz Pino, Leobardo; Vasquez Vargas, Sergio Andrés; Zuluaga, Lency Naranjo; Garzón, Jaime Chamorro; Franco Rodriguez, Adriana Paola; Acosta Alape, Nataly Johana; Arbelaez Mariño, Andrés Felipe; Mora Herrera, Juan José; Ayala Muñoz, Javier Felipe; Camacho Pinzon, Yeiny Carina; Cárdenas Chacón, José Francisco; Peña Arenas, Liliana Andrea; Rodriguez Camargo, Gustavo Adolfo; Sánchez Arango, Carlos Alberto; Bolaños Ñañez, Daniel Mauricio; Garcés-Palacios, Diana Sofía; Ñañez Pantoja, María Alejandra; Ortega-Valencia, Omar Alejandro; Gamboa Bernal, María Paula; Lotero Gómez, Juan David; Martínez-Gutiérrez, Juan Sebastián; Morales-Gómez, Daniel; Pardo-Jiménez, Lina; Fonseca Galindo, Leon Miguel; Garcia Ramirez, Angélica Maria; Saurith Ramirez, Juan David; Barrero Montoya, Ivan Ricardo; Espitia, Santiago Cadena; Rojas, Salomé Pallares; Zapata Berrio, Laura Camila; Benavides Rodríguez, Diana Andrea; Gonzalez, Juan Carlos; Idarraga, Sharon Valentina; Márquez Rodríguez, Óscar Eduardo; Marrugo Prieto, Ivi Yohana; Soledad Machado, Laura Vanessa; Luna, Rubén; Pulido, Nicolás Navarro; Nuñez Ricardo, Federico Javier; García López, Andrea Elena; Luque, Fernando Girón; Jaramillo, Nasly Patiño; Pedraza Alonso, Néstor Fabian; Acuña Acuña Rivera JY, Javier Yecid; Guevara Cruz, Oscar Alexander; Martínez Buitrago, Juan Sebastián; Oviedo, Nathalia Montoya; Santafe Guerrero, Marcia Roxana; Chaves Cortés, Juanita Carolina; Rincón Tello, Francisco Mauricio; Bejarano Ramirez, Diana Fernanda; Cortes Mejia, Nicolas Andres; Garzon Mesa, Camilo Ernesto; Pabon, Alejandra Moncada; Triviño Alvarez, Diego Rymel; Torres, Alonso Vera; Cote Martinez, Maria Alejandra; Machado Rodriguez, Juan Manuel; Martinez, Gonzalo Nuñez; Osuna, Laura Naranjo; Roldan Garay, Andres Felipe; Amado, Daniel; Camacho-Mackenzie, Jaime; Maria Ceballos Mora; Cifuentes-Navarrete, Sara; Donoso-Samper, Andrea; Ferro, Manuel A.; Gómez-Cáceres, Juan C.; Gómez-Galán, Sebastián; Leiva, Ana G.; Lisarazo, Juan; López-Castaño, Maria G.; Martínez-Gil, Sofía; Montoya, M.J.; Niño-Basto, Santiago; Ortigoza-Espitia, Sergio Andrés; Páez, Gustavo; Ramos-Anaya, Jesús William; Rozo, María J.; Umana, Juan P.; Amar, Andres Motta; Barrera Vargas, Andrés Felipe; Maldonado Escalante, Javier Dario; Molina Marroquin, German Ricardo; Prada Lievano, Silvia Alejandra; Vargas-Cuellar, Maria Paula ; Polanía-Sandoval, Camilo A. ; Cabrera-Rivera, Paulo A.
In The Lancet Regional Health - Americas October 2024 38
Academic Journal
Cryptogamie, Mycologie. 42
Academic Journal
Hashimoto, Akiko Soneda ; Yu, Jianshi ; Williams, Christina ; Gaudenz, Karin ; Varshosaz, Parisa ; Zhao, Ruonan ; Pilli, Nageswara ; Liu, Tian ; Russell, Jonathon ; Tooze, Rebecca S. ; Twigg, Stephen R.F. ; Banka, Siddharth ; Sweeney, Elizabeth ; McGowan, Simon J. ; Knight, Samantha J.L. ; Taylor, Jenny C. ; Froukh, Tawfiq Jamal ; Palafoll, M. Irene Valenzuela ; Martínez-Gil, Núria ; Costa-Roger, Mar ; Villarreal-Molina, Maria Teresa ; Lieberman Hernandez, Esther ; Abou Jamra, Rami ; Gattermann, Felix ; Koch-Hogrebe, Margarete ; Wieczorek, Dagmar ; Trainor, Paul A. ; Moise, Alexander R. ; Wilkie, Andrew O.M. ; Kane, Maureen A.
In Genetics in Medicine Open March 2025
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
Academic Journal
Pingault V; Laboratoire « Embryologie et Génétique des Malformations », Institut Imagine, INSERM UMR1163, Université Paris Cité, Paris, France. veronique.pingault@inserm.fr.; Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, F-75015, Paris, France. veronique.pingault@inserm.fr.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France. veronique.pingault@inserm.fr.; Neiva-Vaz C; Chirurgie Maxillofaciale, Hôpital Necker-Enfants Malades, AP-HP Centre, Paris, France.; de Oliveira J; Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, F-75015, Paris, France.; Martínez-Gil N; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Campos B; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Lakeman IMM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Stoeva R; Department of Medical Genetics, Le Mans Hospital, Le Mans, France.; Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.; Dabir T; Medical Genetics Dept, Belfast City Hospital, Belfast, BT9 7AB, UK.; Elloumi HZ; GeneDx, Gaithersburg, MD, USA.; Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Hanein S; Bioinformatic Platform, Institute of Genetic Diseases, INSERM UMR1163, Institut Imagine, Université Paris-Cité and Structure Fédérative de Recherche Necker, 75015, Paris, France.; Picard A; Chirurgie Maxillofaciale, Hôpital Necker-Enfants Malades, AP-HP Centre, Paris, France.; Ochsenbein F; Université Paris-Saclay, CEA, CNRS, Institute for Integrative Biology of the Cell (I2BC), Institute Joliot, Gif-sur-Yvette, France.; Blanc P; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Amiel J; Laboratoire « Embryologie et Génétique des Malformations », Institut Imagine, INSERM UMR1163, Université Paris Cité, Paris, France.; Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, F-75015, Paris, France.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Ortiz-Mateu J; Department of Biochemistry and Molecular Biology, Faculty of Biological Sciences, Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Burjassot E-46100, Spain.; Pearson GJ; School of Cancer and Pharmaceutical Sciences, King's College London, SE1 1UL, UK.; Organelle Dynamics Laboratory, The Francis Crick Institute, 1 Midland Road, London, NW1 1AT, UK.; Rius-Salvador M; Department of Biochemistry and Molecular Biology, Faculty of Biological Sciences, Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Burjassot E-46100, Spain.; Sedighian S; Department of Biochemistry and Biophysics, Stockholm University, Stockholm, Sweden.; Pavlova A; School of Physics, School of Chemistry and Biochemistry, Parker H. Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA, USA.; Alonso-Romero J; Department of Biochemistry and Molecular Biology, Faculty of Biological Sciences, Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Burjassot E-46100, Spain.; Acosta-Cáceres JM; Department of Biochemistry and Molecular Biology, Faculty of Biological Sciences, Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Burjassot E-46100, Spain.; Metola A; Department of Biochemistry and Biophysics, Stockholm University, Stockholm, Sweden.; García-Murria MJ; Department of Biochemistry and Molecular Biology, Faculty of Biological Sciences, Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Burjassot E-46100, Spain.; Skehel JM; Proteomics Science Technology Platform, The Francis Crick Institute, 1 Midland Road, London, NW1 1AT, UK.; Gumbart JC; School of Physics, School of Chemistry and Biochemistry, Parker H. Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA, USA.; Carlton JG; School of Cancer and Pharmaceutical Sciences, King's College London, SE1 1UL, UK.; Organelle Dynamics Laboratory, The Francis Crick Institute, 1 Midland Road, London, NW1 1AT, UK.; von Heijne G; Department of Biochemistry and Biophysics, Stockholm University, Stockholm, Sweden.; Science for Life Laboratory Stockholm University, Solna, Sweden.; Sánchez-Del Pino MM; Department of Biochemistry and Molecular Biology, Faculty of Biological Sciences, Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Burjassot E-46100, Spain.; Martínez-Gil L; Department of Biochemistry and Molecular Biology, Faculty of Biological Sciences, Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Burjassot E-46100, Spain.; Mingarro I; Department of Biochemistry and Molecular Biology, Faculty of Biological Sciences, Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Burjassot E-46100, Spain.
Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Academic Journal
Brayan Grau; Rian Kormos; Manuel Bañó-Polo; Kehan Chen; María J. García-Murria; Fatlum Hajredini; Manuel M. Sánchez del Pino; Hyunil Jo; Luis Martínez-Gil; Gunnar von Heijne; William F. DeGrado; Ismael Mingarro
Sci Adv
Science Advances, vol 11, iss 8
Science Advances, vol 11, iss 8
Persistent luminescence of commercial TLD-100 dosimeter: Using shallow traps for radiation dosimetry
Academic Journal
Salas-Juárez, Ch J. ; Ugalde-Valdés, M.A. ; Guzmán-Mendoza, J. ; Nolasco-Altamirano, D. ; Martínez-Gil, M. ; Gómez-Dominguez, C.E. ; Guarin, C.A. ; Melendrez, R. ; Rivera-Montalvo, T.
In Radiation Measurements September 2023 167
Academic Journal
Bruel AL; INSERM U1231 Génétique des Anomalies du Développement (GAD), University Bourgogne Franche-Comté, 21070 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU-TRANSLAD), Centre Hospitalo-Universitaire (CHU) Dijon Bourgogne, 21079 Dijon, France.; Ganga AK; Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06511, USA.; Nosková L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 128 08, Czech Republic.; Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035 Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Research Institute,08035 Barcelona, Spain.; Martinovic J; Unit of Embryo-Fetal Pathology, AP-HP, Antoine Béclère Hospital, Paris Saclay University, 92141 Clamart, France.; Duffourd Y; INSERM U1231 Génétique des Anomalies du Développement (GAD), University Bourgogne Franche-Comté, 21070 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU-TRANSLAD), Centre Hospitalo-Universitaire (CHU) Dijon Bourgogne, 21079 Dijon, France.; Zikánová M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 128 08, Czech Republic.; Majer F; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 128 08, Czech Republic.; Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 128 08, Czech Republic.; Mohler M; Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava 708 52, Czech Republic.; Sun J; Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06511, USA.; Sweeney LK; Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06511, USA.; Martínez-Gil N; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035 Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Research Institute,08035 Barcelona, Spain.; Thauvin-Robinet C; INSERM U1231 Génétique des Anomalies du Développement (GAD), University Bourgogne Franche-Comté, 21070 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU-TRANSLAD), Centre Hospitalo-Universitaire (CHU) Dijon Bourgogne, 21079 Dijon, France.; Centre de Génétique et Centre de référence maladies rares 'Anomalies du Développement et Syndromes Malformatifs', FHU-TRANSLAD, Hôpital d'Enfants, CHU Dijon Bourgogne, 21079 Dijon, France.; Breslow DK; Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06511, USA.
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Academic Journal
Academic Journal
Henar Albertos-Arranz; Natalia Martínez-Gil; Xavier Sánchez-Sáez; Agustina Noailles; Clara Monferrer Adsuara; Lidia Remolí Sargues; Juan J. Pérez-Santonja; Pedro Lax; Ramón Calvo Andrés; Nicolás Cuenca
Eye and Vision, Vol 10, Iss 1, Pp 1-18 (2023)
Academic Journal
RODERIC. Repositorio Institucional de la Universitat de València
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Rosaleny, Lorena E.; Forment-Aliaga, Alicia; Prima-García, Helena; Cavanillas, Ramón Torres; Baldoví, José J.; Gołȩbiewska, Violetta; Wlazło, Karolina; Escorcia-Ariza, Garin; Escalera-Moreno, Luis; Tatay, Sergio; García-Llácer, Carolina; Clemente-León, Miguel; Cardona-Serra, Salvador; Casino, Patricia; Martínez-Gil, Luis; Gaita-Ariño, Alejandro; Coronado, Eugenio
Academic Journal
Invest Ophthalmol Vis Sci
RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
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[검색어] Martínez-Gil, J. A.
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