학술논문
'학술논문'
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1~10
Academic Journal
Brooks, Daniel; Burke, Elizabeth; Lee, Sukyeong; Eble, Tanya N.; O’Leary, Melanie; Osei-Owusu, Ikeoluwa; Rehm, Heidi L.; Dhar, Shweta U.; Emrick, Lisa; Bick, David; Nehrebecky, Michelle; Macnamara, Ellen; Casas-Alba, Dídac; Armstrong, Judith; Prat, Carolina; Martínez-Monseny, Antonio F.; Palau, Francesc; Liu, Pengfei; Adams, David; Lalani, Seema; Rosenfeld, Jill A.; Burrage, Lindsay C.
Human Genetics. 143(3):279-291
Academic Journal
Palma-Milla, Carmen; Prat-Planas, Aina; Soengas-Gonda, Emma; Centeno-Pla, Mónica; Sánchez-Pozo, Jaime; Lazaro-Rodriguez, Irene; Quesada-Espinosa, Juan F.; Arteche-Lopez, Ana; Olival, Jonathan; Pacio-Miguez, Marta; Palomares-Bralo, María; Santos-Simarro, Fernando; Cancho-Candela, Ramón; Vázquez-López, María; Seidel, Veronica; Martinez-Monseny, Antonio F.; Casas-Alba, Didac; Grinberg, Daniel; Balcells, Susanna; Serrano, Mercedes; Rabionet, Raquel; Martin, Miguel A.; Urreizti, Roser
In Pediatric Neurology June 2024 155:8-17
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; McConkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Hurst, Anna C.E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabíola P.; Parenti, Ilaria; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Mariëlle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
Palma-Milla, Carmen; Prat-Planas, Aina; Soengas-Gonda, Emma; Centeno-Pla, Monica; Sanchez-Pozo, Jaime; Lazaro-Rodriguez, Irene; Quesada-Espinosa, Juan F.; Arteche-Lopez, Ana; Olival, Jonathan; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Cancho-Candela, Ramon; Vazquez-Lopez, Maria; Seidel, Veronica; Martinez-Monseny, Antonio F.; Casas-Alba, Didac; Grinberg, Daniel; Balcells, Susanna; Serrano, Mercedes; Rabionet, Raquel; Martin, Miguel A.; Urreizti, Roser
Academic Journal
Brooks, Daniel; Burke, Elizabeth; Lee, Sukyeong; Eble, Tanya N.; O'Leary, Melanie; Osei-Owusu, Ikeoluwa; Rehm, Heidi L.; Dhar, Shweta U.; Emrick, Lisa; Bick, David; Nehrebecky, Michelle; Macnamara, Ellen; Casas-Alba, Didac; Armstrong, Judith; Prat, Carolina; Martinez-Monseny, Antonio F.; Palau, Francesc; Liu, Pengfei; Adams, David; Lalani, Seema; Rosenfeld, Jill A.; Burrage, Lindsay C.; Undiagnosed Dis Network
Academic Journal
International Journal of Molecular Sciences, Vol 22, Iss 17, p 9610 (2021)
Academic Journal
Antonio F. Martínez-Monseny; Albert Edo; Dídac Casas-Alba; Mercè Izquierdo-Serra; Mercè Bolasell; David Conejo; Loreto Martorell; Jordi Muchart; Laura Carrera; Carlos I. Ortez; Andrés Nascimento; Baldo Oliva; José M. Fernández-Fernández; Mercedes Serrano
International Journal of Molecular Sciences, Vol 22, Iss 10, p 5180 (2021)
Academic Journal
de Diego, Víctor; Martínez-Monseny, Antonio F.; Muchart, Jordi; Cuadras, Daniel; Montero, Raquel; Artuch, Rafael; Pérez-Cerdá, Celia; Pérez, Belén; Pérez-Dueñas, Belén; Poretti, Andrea; Serrano, Mercedes; Aguilera-Albesa, Sergio; Candela, Ramón Cancho; Marina, Ma Llanos Carrasco; Carratalá, Francisco; Couce, Ma Luz; Felipe, Ana; García, Óscar; García-Silva, Ma Teresa; Gutiérrez-Solana, Luis G; Macaya, Alfons; Miranda, Ma Concepción; López, Laura; López-Laso, Eduardo; Póo, M Pilar; Quijada-Fraile, Pilar; Robles, Bernabé; Sierra-Córcoles, Concepción; Velázquez-Fragua, Ramón; Collaborators of the CDG Spanish-Consortium
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. September 2017 40(5):709-713
Academic Journal
Ramon-Krauel, Marta; Amat-Bou, Montse; Serrano, Mercedes; Martinez-Monseny, Antonio F.; Lerin, Carles
Academic Journal
de Diego, Víctor; Martínez-Monseny, Antonio F.; Muchart, Jordi; Cuadras, Daniel; Montero, Raquel; Artuch, Rafael; Pérez-Cerdá, Celia; Pérez, Belén; Pérez-Dueñas, Belén; Poretti, Andrea; Serrano, Mercedes; Aguilera-Albesa, Sergio; Cancho Candela, Ramón; Carrasco Marina, Ma Llanos; Carratalá, Francisco; Couce, Ma Luz; Felipe, Ana; García, Óscar; García-Silva, Ma Teresa; Gutiérrez-Solana, Luis G; Macaya, Alfons; Miranda, Ma Concepción; López, Laura; López-Laso, Eduardo; Póo, M Pilar; Quijada-Fraile, Pilar; Robles, Bernabé; Sierra-Córcoles, Concepción; Velázquez-Fragua, Ramón; Collaborators of the CDG Spanish-Consortium
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. September 2017 40(5):753-754
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[검색어] Martínez‐Monseny, Antonio F.
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