المؤلفون: Ortez, C, Villar, C, Fons, C, Duarte, ST, Pérez, A, García-Villoria, J, Ribes, A, Ormazábal, A, Casado, M, Campistol, Jaume, Vilaseca, MA, García-Cazorla, A

مصطلحات موضوعية: 17-Hydroxysteroid Dehydrogenases, Amyloid beta-Peptides, Biomarkers, Brain Diseases, Metabolic, Inborn, Child, Preschool, Fatal Outcome, Genes, X-Linked, Humans, Male, HDE NEU PED

العلاقة: J Alzheimers Dis. 2011;27(2):253-7; http://hdl.handle.net/10400.17/2499Test

الإتاحة: https://doi.org/10.3233/JAD-2011-110647Test
http://hdl.handle.net/10400.17/2499Test

المؤلفون: CAMPISTOL, JAUME, GASSIÓ, ROSA, ARTUCH, RAFAEL, VILASECA, Ma ANTONIA

المصدر: Developmental Medicine & Child Neurology ; volume 53, issue 5, page 405-408 ; ISSN 0012-1622

الإتاحة: https://doi.org/10.1111/j.1469-8749.2010.03869.xTest

المؤلفون: Suzuki Y, Narisawa K. “identification, Briones P, Ribes A, Vilaseca Ma, Rodriguez-valcarcel G, Thuy Lp, Carpenter Kh, Wilcken B, Christodoulou J, Thorburn Dr. “holocarboxylase Synthetase Deficiency

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.idph.state.ia.us/genetics/common/pdf/mcd_ref.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.432.3658Test; http://www.idph.state.ia.us/genetics/common/pdf/mcd_ref.pdfTest

الإتاحة: http://www.idph.state.ia.us/genetics/common/pdf/mcd_ref.pdfTest

المؤلفون: Moyano, D, Vilaseca, MA, Artuch, R, Valls, C, Lambruschini, N

المصدر: European Journal of Clinical Nutrition ; volume 52, issue 3, page 172-175 ; ISSN 0954-3007 1476-5640

مصطلحات موضوعية: Nutrition and Dietetics, Medicine (miscellaneous)

الإتاحة: https://doi.org/10.1038/sj.ejcn.1600530Test
https://www.nature.com/articles/1600530.pdfTest
https://www.nature.com/articles/1600530Test

المؤلفون: Moyano, D, Vilaseca, MA, Artuch, R, Lambruschini, N

المصدر: European Journal of Clinical Nutrition ; volume 52, issue 9, page 684-689 ; ISSN 0954-3007 1476-5640

مصطلحات موضوعية: Nutrition and Dietetics, Medicine (miscellaneous)

الإتاحة: https://doi.org/10.1038/sj.ejcn.1600625Test
https://www.nature.com/articles/1600625.pdfTest
https://www.nature.com/articles/1600625Test

المؤلفون: Tessa A, Fiermonte G, Dionisi Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz Echevarría L, Besley G, Walter J, Martinez Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM, PARENTI, GIANCARLO

المساهمون: Tessa, A, Fiermonte, G, Dionisi Vici, C, Paradies, E, Baumgartner, Mr, Chien, Yh, Loguercio, C, de Baulny, Ho, Nassogne, Mc, Schiff, M, Deodato, F, Parenti, Giancarlo, Rutledge, Sl, Vilaseca, Ma, Melone, Ma, Scarano, G, Aldamiz Echevarría, L, Besley, G, Walter, J, Martinez Hernandez, E, Hernandez, Jm, Pierri, Cl, Palmieri, F, Santorelli, Fm

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19242930; volume:30; firstpage:741; lastpage:748; numberofpages:8; journal:HUMAN MUTATION; http://hdl.handle.net/11588/378782Test

الإتاحة: http://hdl.handle.net/11588/378782Test

المؤلفون: Item CB, Mercimek-Mahmutoglu S, Battini R, Edlinger-Horvat C, Stromberger C, Bodamer O, Muhl A, Vilaseca MA, Korall H and Stockler-Ipsiroglu S

المساهمون: Item, Cb, Mercimek-Mahmutoglu, S, Battini, R, Edlinger-Horvat, C, Stromberger, C, Bodamer, O, Muhl, A, Vilaseca, Ma, Korall, H and Stockler-Ipsiroglu S

العلاقة: volume:709; firstpage:1; lastpage:7; numberofpages:7; journal:HUMAN MUTATION; http://hdl.handle.net/11568/951348Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-4444319288

الإتاحة: http://hdl.handle.net/11568/951348Test

المؤلفون: van de Kamp, JM, Betsalel, OT, Mercimek-Mahmutoglu, S, Abulhoul, L, Grunewald, S, Anselm, I, Azzouz, H, Bratkovic, D, Brouwer, A (Annemarie), Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, MA, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, ter Haar, S (S.), Meijers-Heijboer, HE, Hofstede, F, Johnson, D, Kant, SG, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, JA, Monteiro, JP, Munnich, A, Muntau, AC, Nassogne, MC, Osaka, H, Ounap, K, Pinard, JM, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, CE, Schwenger, S, Soares, G, Sznajer, Y

المصدر: van de Kamp , JM , Betsalel , OT , Mercimek-Mahmutoglu , S , Abulhoul , L , Grunewald , S , Anselm , I , Azzouz , H , Bratkovic , D , Brouwer , A , Hamel , B , Kleefstra , T , Yntema , H , Campistol , J , Vilaseca , MA , Cheillan , D , D'Hooghe , M , Diogo , L , Garcia , P , Valongo , C , Fonseca , M , Frints , S , Wilcken , B , ter Haar , S , Meijers-Heijboer , HE , ....

الإتاحة: https://doi.org/10.1136/jmedgenet-2013-101658Test
https://pure.eur.nl/en/publications/0a48a581-5444-4af7-a228-1a5af7e742d4Test
http://hdl.handle.net/1765/66522Test

المؤلفون: Aebi, M, Berger, EG, Briones, P, von Figura, K, Hennet, T, Jaeken, Jacques, Korner, C, Matthijs, Gert, Van Schaftingen, E, Vilaseca, MA, Wevers, R, Winchester, B

العلاقة: American journal of human genetics vol:71 issue:4 pages:424-424; 52nd Annual Meeting of the American-Society-of-Human-Genetics location:BALTIMORE, MARYLAND date:OCT 15-19, 2002; https://lirias.kuleuven.be/handle/123456789/251023Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/251023Test

المؤلفون: Espinós, C, García‐Cazorla, A, Martínez‐Rubio, D, Martínez‐Martínez, E, Vilaseca, MA, Pérez‐Dueñas, B, Kožich, V, Palau, F, Artuch, R

المصدر: Clinical Genetics ; volume 78, issue 6, page 554-559 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2010.01431.xTest