학술논문
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'학술논문'
에서 검색결과 76건 | 목록
1~20
Academic Journal
Marta Domínguez-Martínez; Alfonso Caro-Llopis; Carla Martín-Grau; Mónica Roselló; Silvestre Oltra; Laia Pedrola; Sandra Monfort; Alba Gabaldón-Albero; Francisco Martínez; Carmen Orellana
Amyloid. :1-11
Academic Journal
Gholson J. Lyon; Marall Vedaie; Travis Beisheim; Agnes Park; Elaine Marchi; Leah Gottlieb; Tzung-Chien Hsieh; Hannah Klinkhammer; Katherine Sandomirsky; Hanyin Cheng; Lois J. Starr; Isabelle Preddy; Marcellus Tseng; Quan Li; Yu Hu; Kai Wang; Ana Carvalho; Francisco Martinez; Alfonso Caro-Llopis; Maureen Gavin; Karen Amble; Peter Krawitz; Ronen Marmorstein; Ellen Herr-Israel
Eur J Hum Genet
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Academic Journal
Lucy Loong; Agostina Tardivo; Alexej Knaus; Mona Hashim; Alistair T. Pagnamenta; Kerstin Alt; Helena Böhrer-Rabel; Alfonso Caro-Llopis; Trevor Cole; Felix Distelmaier; Patrick Edery; Carlos R. Ferreira; Aleksandra Jezela-Stanek; Bronwyn Kerr; Gerhard Kluger; Peter M. Krawitz; Marius Kuhn; Johannes R. Lemke; Gaetan Lesca; Sally Ann Lynch; Francisco Martinez; Caroline Maxton; Hanna Mierzewska; Sandra Monfort; Joost Nicolai; Carmen Orellana; Deb K. Pal; Rafał Płoski; Oliver W. Quarrell; Monica Rosello; Małgorzata Rydzanicz; Ataf Sabir; Robert Śmigiel; Alexander P.A. Stegmann; Helen Stewart; Constance Stumpel; Elżbieta Szczepanik; Andreas Tzschach; Lynne Wolfe; Jenny C. Taylor; Yoshiko Murakami; Taroh Kinoshita; Allan Bayat; Usha Kini
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Academic Journal
Küry, Sébastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie; Josiah, Sunday; Kiziltug, Emre; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Kundishora, Adam; Hao, Le; Li, Hong; Stevenson, Roger; Louie, Raymond; Deb, Wallid; Torti, Erin; Vignard, Virginie; Mcwalter, Kirsty; Raymond, F Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Õunap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid; Barr, Eileen; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor; Monaghan, Kristin; Rio, Marlène; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy; Wilson, Ashley; Quinquis, Delphine; Bréhéret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine; Berger, Sara; Milla, Sarah; Jaykumar, Ankita; Cobb, Melanie; Panchagnula, Shreyas; Duy, Phan; Vincent, Marie; Mercier, Sandra; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Audebert-Bellanger, Séverine; Odent, Sylvie; Schmitt, Sébastien; Boisseau, Pierre; Bonneau, Dominique; Toutain, Annick; Colin, Estelle; Pasquier, Laurent; Redon, Richard; Bouman, Arjan; Rosenfeld, Jill; Friez, Michael; Pérez-Peña, Helena; Akhtar Rizvi, Syed Raza; Haider, Shozeb; Antonarakis, Stylianos; Schwartz, Charles; Martínez, Francisco; Bézieau, Stéphane; Kahle, Kristopher; Isidor, Bertrand
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
instname
Academic Journal
Gabaldon-Albero, Alba; Cordon, Lourdes; Sempere, Amparo; Pedrola, Laia; Martin-Grau, Carla; Oltra, Silvestre; Monfort, Sandra; Caro-Llopis, Alfonso; Dominguez-Martinez, Marta; Hernandez-Muela, Sara; Rosello, Monica; Orellana, Carmen; Martinez, Francisco
Genes. June, 2024, Vol. 15 Issue 6
Academic Journal
Allan Bayat; Guillem de Valles‐Ibáñez; Manuela Pendziwiat; Alexej Knaus; Kerstin Alt; Elisa Biamino; Annette Bley; Sophie Calvert; Patrick Carney; Alfonso Caro‐Llopis; Berten Ceulemans; Janice Cousin; Suzanne Davis; Vincent des Portes; Patrick Edery; Eleina England; Carlos Ferreira; Jeremy Freeman; Blanca Gener; Magali Gorce; Delphine Heron; Michael S. Hildebrand; Aleksandra Jezela‐Stanek; Pierre‐Simon Jouk; Boris Keren; Katja Kloth; Gerhard Kluger; Marius Kuhn; Johannes R. Lemke; Hong Li; Francisco Martinez; Caroline Maxton; Heather C. Mefford; Giuseppe Merla; Hanna Mierzewska; Alison Muir; Sandra Monfort; Joost Nicolai; Jennifer Norman; Gina O'Grady; Barbara Oleksy; Carmen Orellana; Laura Elena Orec; Charlotte Peinhardt; Ewa Pronicka; Monica Rosello; Fernando Santos‐Simarro; Eva Maria Christina Schwaibold; Alexander P. A. Stegmann; Constance T. Stumpel; Elzbieta Szczepanik; Iwona Terczyńska; Julien Thevenon; Andreas Tzschach; Patrick Van Bogaert; Roberta Vittorini; Sonja Walsh; Sarah Weckhuysen; Barbara Weissman; Lynne Wolfe; Alexandre Reymond; Pasquelena De Nittis; Annapurna Poduri; Heather Olson; Pasquale Striano; Gaetan Lesca; Ingrid E. Scheffer; Rikke S. Møller; Lynette G. Sadleir
Epilepsia
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P,Caro -Llopis , A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, M S, Jezela-Stanek, A, Jouk, P S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, J R, Li, H, Martinez, F, Maxton, C, Mefford, H C, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, L E, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, E M C, Stegmann, A P A, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, I E, Møller, R S & Sadleir, L G 2022, ' PIGN encephalopathy : Characterizing the epileptology ', Epilepsia, vol. 63, no. 4, pp. 974-991 . https://doi.org/10.1111/epi.17173
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P,
Academic Journal
Ana Victoria Marco-Hernández; Alfonso Caro-Llopis; Pilar Rubio Sánchez; Juan Carlos Martínez Martínez; Miguel Tomás Vila; Sandra Monfort; Francisco Martínez
JOURNAL OF CHILD NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Academic Journal
Academic Journal
Monica, Rosello; Alfonso, Caro-Llopis; Carmen, Orellana; Silvestre, Oltra; Marta, Alemany-Albert; Ana V, Marco-Hernandez; Sandra, Monfort; Laia, Pedrola; Francisco, Martinez; Miguel, Tomás
Pediatric Research. 90:284-288
Academic Journal
Sandra Monfort; Carmen Orellana; Silvestre Oltra; Mónica Rosello; Alfonso Caro-Llopis; Francisco Martinez
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Academic Journal
Gholson J. Lyon; Marall Vedaie; Travis Besheim; Agnes Park; Elaine Marchi; Leah Gottlieb; Tzung-Chien Hsieh; Hannah Klinkhammer; Katherine Sandomirsky; Hanyin Cheng; Lois J. Starr; Isabelle Preddy; Marcellus Tseng; Quan Li; Yu Hu; Kai Wang; Ana Carvalho; Francisco Martinez; Alfonso Caro-Llopis; Maureen Gavin; Karen Amble; Peter Krawitz; Ronen Marmorstein; Ellen Herr-Israel
Academic Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
r-FISABIO: Repositorio Institucional de Producción Científica
Kleinendorst, L, Pi Castán, G,Caro -Llopis , A, Boon, E M J & van Haelst, M M 2018, 'The role of obesity in the fatal outcome of Schaaf–Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation', American Journal of Medical Genetics, Part A, vol. 176, no. 11, pp. 2456-2459. https://doi.org/10.1002/ajmg.a.40486
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
r-FISABIO: Repositorio Institucional de Producción Científica
Kleinendorst, L, Pi Castán, G,
Academic Journal
Parisa Hemati; Anya Revah‐Politi; Haim Bassan; Slavé Petrovski; Colleen G. Bilancia; Keri Ramsey; Nicole G. Griffin; Louise Bier; Megan T. Cho; Monica Rosello; Sally Ann Lynch; Sophie Colombo; Astrid Weber; Marte Haug; Erin L. Heinzen; Tristan T. Sands; Vinodh Narayanan; Michelle Primiano; Vimla S. Aggarwal; Francisca Millan; Shannon G. Sattler‐Holtrop; Alfonso Caro‐Llopis; Nir Pillar; Janice Baker; Rebecca Freedman; Hester Y. Kroes; Stephanie Sacharow; Nick Stong; Pablo Lapunzina; Michael C. Schneider; Nancy J. Mendelsohn; Amanda Singleton; Valerie Loik Ramey; Karen Wou; Alla Kuzminsky; Sandra Monfort; Monika Weisz Hubshman; Samantha Doyle; Alejandro Iglesias; Francisco Martinez; Fiona Mckenzie; Carmen Orellana; Koen L.I. van Gassen; Maria Palomares; Lily Bazak; Andy Lee; Ana Bircher; Lina Basel‐Vanagaite; Maria Hafström; Gunnar Houge; David B. Goldstein; Kwame Anyane‐Yeboa
American Journal of Medical Genetics Part A. 176:2259-2275
Academic Journal
Ana Victoria Marco Hernández; Miguel Tomás Vila; Alfonso Caro Llopis; Sandra Monfort; Francisco Martinez
Frontiers in Neurology, Vol 12 (2021)
Academic Journal
Bayat, Allan; Valles‐Ibáñez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro‐Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela‐Stanek, Aleksandra; Jouk, Pierre‐Simon; Keren, Boris; Kloth, Katja; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos‐Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P.A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczyńska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Møller, Rikke S.; Sadleir, Lynette G.
Epilepsia
Academic Journal
Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola S.; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn I.; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju G.; Nassogne, Marie-Cécile; Powell-Hamilton, Nina; Pfundt, Rolph; Rosello, Monica; Prescott, Trine; Vasudevan, Pradeep; Loon, Barbara Van; Verellen-Dumoulin, Christine; Verloes, Alain; Lippe, Charlotte von Der; Wakeling, Emma; Wilkie, Andrew O. M.; Wilson, Louise; Yuen, Amy; Study, Ddd; Low, Karen; Newbury-Ecob, Ruth A
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
European Journal of Human Genetics, 26, 1, pp. 64-74
European Journal of Human Genetics, Vol. 26, no. 1, p. 64-74 (2018)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
European Journal of Human Genetics, 26, 1, pp. 64-74
European Journal of Human Genetics, Vol. 26, no. 1, p. 64-74 (2018)
Academic Journal
O’Rawe, Jason A; Wu, Yiyang; Dörfel, Max J; Rope, Alan F; Au, P. Y. Billie; Parboosingh, Jillian S; Moon, Sungjin; Kousi, Maria; Kosma, Konstantina; Smith, Christopher S; Tzetis, Maria; Schuette, Jane L; Hufnagel, Robert B; Prada, Carlos E; Martinez, Francisco; Orellana, Carmen; Crain, Jonathan; Caro-Llopis, Alfonso; Oltra, Silvestre; Monfort, Sandra; Jiménez-Barrón, Laura T; Swensen, Jeffrey; Ellingwood, Sara; Smith, Rosemarie; Fang, Han; Ospina, Sandra; Stegmann, Sander; Den Hollander, Nicolette; Mittelman, David; Highnam, Gareth; Robison, Reid; Yang, Edward; Faivre, Laurence; Roubertie, Agathe; Rivière, Jean-Baptiste; Monaghan, Kristin G; Wang, Kai; Davis, Erica E; Katsanis, Nicholas; Kalscheuer, Vera M; Wang, Edith H; Metcalfe, Kay; Kleefstra, Tjitske; Innes, A. Micheil; Kitsiou-Tzeli, Sophia; Rosello, Monica; Keegan, Catherine E; Lyon, Gholson J
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
American Journal of Human Genetics, 97, 6, pp. 922-32
The American Journal of Human Genetics
Papai, G., Weil, P.A., Schultz, P., New insights into the function of transcription factor TFIID from recent structural studies (2011) Curr. Opin. Genet. Dev., 21, pp. 219-224
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
American Journal of Human Genetics, 97, 6, pp. 922-32
The American Journal of Human Genetics
Papai, G., Weil, P.A., Schultz, P., New insights into the function of transcription factor TFIID from recent structural studies (2011) Curr. Opin. Genet. Dev., 21, pp. 219-224
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Academic Journal
Machol, Keren; Rousseau, Justine; Ehresmann, Sophie; Garcia, Thomas; Nguyen, Thi Tuyet Mai; Spillmann, Rebecca C.; Sullivan, Jennifer A.; Shashi, Vandana; Jiang, Yong hui; Stong, Nicholas; Fiala, Elise; Willing, Marcia; Pfundt, Rolph; Kleefstra, Tjitske; Cho, Megan T.; McLaughlin, Heather; Rosello Piera, Monica; Orellana, Carmen; Martínez, Francisco; Caro-Llopis, Alfonso; Monfort, Sandra; Roscioli, Tony; Nixon, Cheng Yee; Buckley, Michael F.; Turner, Anne; Jones, Wendy D.; van Hasselt, Peter M.; Hofstede, Floris C.; van Gassen, Koen L.I.; Brooks, Alice S.; van Slegtenhorst, Marjon A.; Lachlan, Katherine; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Sonal, Desai; Sakkubai, Naidu; Thevenon, Julien; Faivre, Laurence; Maurel, Alice; Petrovski, Slavé; Krantz, Ian D.; Tarpinian, Jennifer M.; Rosenfeld, Jill A.; Lee, Brendan H.; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Undiagnosed Diseases Network
Academic Journal
Sonia Mayo; Sandra Monfort; Mónica Roselló; Carmen Orellana; Silvestre Oltra; Alfonso Caro-Llopis; Francisco Martínez
International Journal of Genomics, Vol 2017 (2017)
Academic Journal
Martínez, Francisco; Caro-Llopis, Alfonso; Roselló, Mónica; Oltra, Silvestre; Mayo, Sonia; Monfort, Sandra; Orellana, Carmen
Journal of Medical Genetics. Feb 01, 2017 54(2):87-92
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[검색어] Caro-Llopis, Alfonso
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