المؤلفون: Falkenberg, KD, Braverman, NE, Moser, AB, Steinberg, SJ, Klouwer, FCC, Schluter, A, Ruiz, M, Pujol, A, Engvall, M, Naess, K, van Spronsen, F, Korver-Keularts, I, Rubio-Gozalbo, ME, Ferdinandusse, S, Wanders, RJA, Waterham, HR

المصدر: American journal of human genetics. 101(6):965-976

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:137203153Test

المؤلفون: Braverman, Ne, Bober, M, Oswald, Gl, BRUNETTI PIERRI, NICOLA

المساهمون: Braverman, Ne, Bober, M, BRUNETTI PIERRI, Nicola, Oswald, Gl

العلاقة: journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11588/614147Test

الإتاحة: http://hdl.handle.net/11588/614147Test

المؤلفون: Ferriero R, Boutron A, Brivet M, Kerr D, Morava E, Rodenburg RJ, Bonafé L, Baumgartner MR, Anikster Y, Braverman NE, BRUNETTI PIERRI, NICOLA

المساهمون: Ferriero, R, Boutron, A, Brivet, M, Kerr, D, Morava, E, Rodenburg, Rj, Bonafé, L, Baumgartner, Mr, Anikster, Y, Braverman, Ne, BRUNETTI PIERRI, Nicola

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000209815200002; volume:1; issue:7; firstpage:462; lastpage:470; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; http://hdl.handle.net/11588/609677Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84964383803

الإتاحة: https://doi.org/10.1002/acn3.73Test
http://hdl.handle.net/11588/609677Test

المؤلفون: Ferriero, R, Boutron, A, Brivet, M, Kerr, D, Morava, Eva, Rodenburg, RJ, Bonafé, L, Baumgartner, MR, Anikster, Y, Braverman, NE, Brunetti-Pierri, N

وصف الملف: 396978 bytes; application/pdf

العلاقة: Annals of Clinical Research vol:1 issue:7 pages:462-470; https://lirias.kuleuven.be/handle/123456789/559722Test; https://lirias.kuleuven.be/bitstream/123456789/559722/1//acn30001-0462.pdfTest

الإتاحة: https://lirias.kuleuven.be/handle/123456789/559722Test
https://lirias.kuleuven.be/bitstream/123456789/559722/1//acn30001-0462.pdfTest

المؤلفون: BARTELS, CF, BUKULMEZ, H, PADAYATTI, P, RHEE, DK, VAN RAVENSWAAIJ-ARTS, C, PAULI, RM, MUNDLOS, S, CHITAYAT, D, SHIH, LY, AL-GAZALI, LI, KANT, S, COLE, T, MORTON, J, CORMIER-DAIRE, V, FAIVRE, L, LEES, M, KIRK, J, Mortier, Geert, Leroy, Juliaan, ZABEL, B, KIM, CA, CROW, Y, BRAVERMAN, NE, VAN DEN AKKER, F, WARMAN, ML

المصدر: AMERICAN JOURNAL OF HUMAN GENETICS ; ISSN: 0002-9297

مصطلحات موضوعية: Medicine and Health Sciences

العلاقة: https://biblio.ugent.be/publication/305011Test; http://hdl.handle.net/1854/LU-305011Test

الإتاحة: https://biblio.ugent.be/publication/305011Test
http://hdl.handle.net/1854/LU-305011Test

المؤلفون: Mollerat, Xj, Everman, Db, Gurrieri, F., Morgan, Ct, Sangiorgi, E., Gaspari, P., Ameil, J., Bamshad, Mj, Lyle, R., Allanson, Je, Le Marec, B., J.H.L.M. (Hans) van Bokhoven, Braverman, Ne, Radhakrishna, U., Elghouzzi, V., Antonarakis, S., Stevenson, Re, Munnich, A., Neri, G., Schwartz, Ce

المصدر: Web of Science
ResearcherID

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::788a1bd3773975157832d41d2ad3dd89Test
https://publons.com/wos-op/publon/11895994Test/

المؤلفون: Cohn RD, Eklund E, Bergner AL, Casella JF, Woods SL, Althaus J, Blakemore KJ, Fox HE, Hoover-Fong JE, Hamosh A, Braverman NE, Freeze HH, Boyadjiev SA

المصدر: Pediatrics; Aug2006, Vol. 118 Issue 2, pe514-21, 1p

المؤلفون: Nicola Brunetti-Pierri, Matthias R. Baumgartner, Yair Anikster, Douglas S. Kerr, Luisa Bonafé, Richard J. Rodenburg, Eva Morava, Rosa Ferriero, Nancy Braverman, Michèle Brivet, Audrey Boutron

المساهمون: University of Zurich, Brunetti-Pierri, Nicola, Ferriero, R, Boutron, A, Brivet, M, Kerr, D, Morava, E, Rodenburg, Rj, Bonafé, L, Baumgartner, Mr, Anikster, Y, Braverman, Ne, BRUNETTI PIERRI, Nicola

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, vol. 1, no. 7, pp. 462-470
Annals of Clinical and Translational Neurology, 1, 462-70
Annals of Clinical and Translational Neurology, 1, 7, pp. 462-70

مصطلحات موضوعية: 610 Medicine & health, Biology, Phenylbutyrate, 03 medical and health sciences, 0302 clinical medicine, medicine, Research Articles, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Kinase, General Neuroscience, 2800 General Neuroscience, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Pyruvate dehydrogenase complex, medicine.disease, Enzyme assay, 3. Good health, Pyruvate dehydrogenase deficiency, Blot, Enzyme, 2728 Neurology (clinical), Biochemistry, chemistry, 10036 Medical Clinic, Lactic acidosis, biology.protein, Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: application/pdf; 103307.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::497b12c56f5952d5ccf413ddd195fd2eTest
https://pubmed.ncbi.nlm.nih.gov/25356417Test