المؤلفون: Kolker, S, Valayannopoulos, V, Burlina, AB, Sykut-Cegielska, J, Wijburg, FA, Teles, EL, Zeman, J, Dionisi-Vici, C, Baric, I, Karall, D, Arnoux, JB, Avram, P, Baumgartner, MR, Blasco-Alonso, J, Boy, SPN, Rasmussen, MB, Burgard, P, Chabrol, B, Chakrapani, A, Chapman, K, Saladelafont, ECI, Couce, ML, de Meirleir, L, Dobbelaere, D, Furlan, F, Gleich, F, Gonzalez, MJ, Gradowska, W, Grunewald, S, Honzik, T, Horster, F, Ioannou, H, Jalan, A, Haberle, J, Haege, G, Langereis, E, de Lonlay, P, Martinelli, D, Matsumoto, S, Muhlhausen, C, Murphy, E, de Baulny, HO, Ortez, C, Pedron, CC, Pintos-Morell, G, Pena-Quintana, L, Ramadza, DP, Rodrigues, E, Scholl-Burgi, S, Sokal, E

المصدر: Kolker , S , Valayannopoulos , V , Burlina , AB , Sykut-Cegielska , J , Wijburg , FA , Teles , EL , Zeman , J , Dionisi-Vici , C , Baric , I , Karall , D , Arnoux , JB , Avram , P , Baumgartner , MR , Blasco-Alonso , J , Boy , SPN , Rasmussen , MB , Burgard , P , Chabrol , B , Chakrapani , A , Chapman , K , Saladelafont , ECI , Couce , ML , de Meirleir , L , Dobbelaere , D , Furlan , ....

الإتاحة: https://doi.org/10.1007/s10545-015-9840-xTest
https://pure.eur.nl/en/publications/0d2bcb9a-aadd-43af-a750-11d06c7790a7Test

المؤلفون: Kolker, S, Cazorla, AG, Valayannopoulos, V, Lund, AM, Burlina, AB, Sykut-Cegielska, J, Wijburg, FA, Teles, EL, Zeman, J, Dionisi-Vici, C, Baric, I, Karall, D, Augoustides-Savvopoulou, P, Aksglaede, L, Arnoux, JB, Avram, P, Baumgartner, MR, Blasco-Alonso, J, Chabrol, B, Chakrapani, A, Chapman, K, Saladelafont, ECI, Couce, ML, de Meirleir, L, Dobbelaere, D, Dvorakova, V, Furlan, F, Gleich, F, Gradowska, W, Grunewald, S, Jalan, A, Haberle, J, Haege, G, Lachmann, R, Laemmle, A, Langereis, E, de Lonlay, P, Martinelli, D, Matsumoto, S, Muhlhausen, C, de Baulny, HO, Ortez, C, Pena-Quintana, L, Ramadza, DP, Rodrigues, E, Scholl-Burgi, S, Sokal, E, Staufner, C, Summar, ML, Thompson, N

المصدر: Kolker , S , Cazorla , AG , Valayannopoulos , V , Lund , AM , Burlina , AB , Sykut-Cegielska , J , Wijburg , FA , Teles , EL , Zeman , J , Dionisi-Vici , C , Baric , I , Karall , D , Augoustides-Savvopoulou , P , Aksglaede , L , Arnoux , JB , Avram , P , Baumgartner , MR , Blasco-Alonso , J , Chabrol , B , Chakrapani , A , Chapman , K , Saladelafont , ECI , Couce , ML , de Meirleir , L , Dobbelaere , ....

الإتاحة: https://doi.org/10.1007/s10545-015-9839-3Test
https://pure.eur.nl/en/publications/6b623298-fb4b-4da0-adc5-c2c49bec12deTest
http://hdl.handle.net/1765/84849Test

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: Achouitar S, Mohamed M, Gardeitchik T, Wortmann SB, Sykut-Cegielska J, Ensenauer R, de Baulny HO, Ounap K, Martinelli D, de Vries M, McFarland R, Kouwenberg D, Theodore M, Wijburg F, Grunewald S, Jaeken J, Wevers RA, Nijtmans L, Elson J, Morava E

المصدر: Journal of Inherited Metabolic Disease, 03-05-2011

وصف الملف: application/pdf

الإتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=181471/27EE9E39-AD58-41CB-8F8F-08825F28CB00.pdf&pub_id=181471Test

المؤلفون: Aydin, A, de Baulny, HO, Touati, G, Porquet, D, Elion, J, Acquaviva, C, Benoist, JF, Callebaut, I, Guffon, N

المساهمون: 162771

مصطلحات موضوعية: Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Sitogenetik, Temel Bilimler, BİYOKİMYA VE MOLEKÜLER BİYOLOJİ, Dahili Tıp Bilimleri, Sağlık Bilimleri, Tıp, GENETİK VE HAYAT, Yaşam Bilimleri (LIFE), Tıbbi Genetik

العلاقة: EUROPEAN JOURNAL OF HUMAN GENETICS; Acquaviva C., Benoist J., Callebaut I., Guffon N., de Baulny H., Touati G., Aydin A., Porquet D., Elion J., "N219Y, a new frequent mutation among mut degrees forms of methylmalonic acidemia in Caucasian patients", EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.9, sa.8, ss.577-582, 2001; vv_1032021; av_172d0c03-b3c2-469a-b103-e886d8d2613e; http://hdl.handle.net/20.500.12627/20925Test; https://doi.org/10.1038/sj.ejhg.5200675Test; 577; 582

الإتاحة: https://doi.org/20.500.12627/20925Test
https://doi.org/10.1038/sj.ejhg.5200675Test
https://hdl.handle.net/20.500.12627/20925Test

المؤلفون: Duval, de Baulny HO, Vilmer

المصدر: The Journal of Pediatrics. 136:134

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9198312e9d17a7c2a5f0cfe19bd920ecTest
https://doi.org/10.1016/s0022-3476Test(00)90073-8

المؤلفون: Auré K, Benoist JF, de Baulny HO, Romero NB, Rigal O, Lombès A, Auré, K, Benoist, J F, Ogier de Baulny, H, Romero, N B, Rigal, O, Lombès, A

المصدر: Neurology; 2004 Aug 24, Vol. 63 Issue 4, p727-729, 3p

المؤلفون: Gioacchino Scarano, Giuseppe Fiermonte, S. Lane Rutledge, Ferdinando Palmieri, G. T. N. Besley, Marie-Cécile Nassogne, Eleonora Paradies, Giancarlo Parenti, M. Antonia Vilaseca, Luiz Aldamiz-Echevarria, Alessandra Tessa, Eugenia Martinez-Hernandez, Ciro Leonardo Pierri, Carlo Dionisi-Vici, Matthias R. Baumgartner, John H. Walter, Carmela Loguercio, Mariarosa A. B. Melone, Yin-Hsiu Chien, Jose M. Hernandez, Hélène Ogier de Baulny, Filippo M. Santorelli, Manuel Schiff, Federica Deodato

المساهمون: Tessa, A, Fiermonte, G, DIONISI VICI, C, Paradies, E, Baumgartner, Mr, Chien, Yh, Loguercio, Carmelina, DE BAULNY, Ho, Nassogne, Mc, Schiff, M, Deodato, F, Parenti, G, LANE RUTLEDGE, S, ANTONIA VILASECA, M, Melone, Mariarosa Anna Beatrice, Scarano, G, ALDAMIZ ECHEVARRÍA, L, Besley, G, Walter, J, MARTINEZ HERNANDEZ, E, Hernandez, Jm, Pierri, Cl, Palmieri, F, Santorelli, Fm, Dionisi Vici, C, Loguercio, C, de Baulny, Ho, Parenti, Giancarlo, Rutledge, Sl, Vilaseca, Ma, Melone, Ma, Aldamiz Echevarría, L, Martinez Hernandez, E, University of Zurich, Palmieri, Ferdinando

مصطلحات موضوعية: Adult, Male, Ornithine, 2716 Genetics (clinical), hyperammonemia, homocitrullinuria, In silico, Mutant, 610 Medicine & health, Biology, medicine.disease_cause, Mitochondrial Membrane Transport Proteins, ORC1, Protein Structure, Secondary, hyperornithinemia, Protein structure, 1311 Genetics, Genetics, medicine, Escherichia coli, Missense mutation, Humans, Child, Gene, Genetics (clinical), Mutation, Infant, Newborn, Infant, Hyperammonemia, Biological Transport, Syndrome, Middle Aged, medicine.disease, 10036 Medical Clinic, Urea cycle, Child, Preschool, Amino Acid Transport Systems, Basic, Citrulline, Female, Mutant Proteins, SLC25A15, HHH

وصف الملف: STAMPA; Tessa_Mutations_SLC25A15_Hum_Mut09_v.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3de70863f2be8e5c550166b8abf5c4dTest