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المؤلفون: Manole, A, Efthymiou, S, O'Connor, E, Mendes, MI, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, MR, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, CS, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, LB, Kara, B, Aslanger, AD, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, KM, Wang, L, Rosti, RO, Paracha, SA, Sarwar, MT, Jenkins, D, SYNAPS Study Group, Ahmed, J, Santoni, FA, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, IM, Guillen Sacoto, MJ, Si, Y, Telegrafi, A, Andrews, MV, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, AJM, Stevens, SJC, Bähler, J, Nasar, A, Mantovani, JF, Manzur, A, Sarkozy, A, Smith, DEC, Salomons, GS, Ahmed, ZM, Riazuddin, S, Usmani, MA, Seibt, A, Ansar, M, Antonarakis, SE, Vincent, JB, Ayub, M, Grimmel, M, Jelsig, AM, Hjortshøj, TD, Karstensen, HG, Hummel, M, Haack, TB, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, JG, Becker, H, Mandel, J-L, Koolen, DA, Houlden, H
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::2c2864a4951208740eb522d6f50b63e1
https://openaccess.sgul.ac.uk/id/eprint/112307/2/1-s2.0-S0002929720302044-main.pdf -
2دورية أكاديمية
المؤلفون: Salomons, GS, Smets, LAAff1, ID2401529_cor2, Verwijs-Janssen, M, Hart, AAM, Haarman, EG, Kaspers, GJL, Van Wering, ER, Van Der Does-Van Den Berg, A, Kamps, WAAff4, Aff5
المصدر: Leukemia. 13(10):1574-1580
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المؤلفون: Struys, EA, van der Knaap, MS, Salomons, GS, Hollak, CEM, Lachmann, R
المساهمون: Clinical chemistry, Pediatrics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms
المصدر: Inherited Metabolic Disease in Adults: A Clinical Guide
URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::e20440235422e797f88be801efd74957
https://research.vumc.nl/en/publications/c1d41a12-80c0-4a93-bad3-64ad91e246ce -
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المؤلفون: van de Kamp, JM, Errami, A, Howidi, M, Anselm, I, Winter, S, Phalin-Roque, J, Osaka, H, van Dooren, SJM, Verheijen - Mancini, Grazia, Steinberg, SJ, Salomons, GS
المساهمون: Human genetics, Laboratory Medicine, NCA - Brain mechanisms in health and disease, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Clinical Genetics
المصدر: van de Kamp, J M, Errami, A, Howidi, M, Anselm, I, Winter, S, Phalin-Roque, J, Osaka, H, van Dooren, S J M, Mancini, G M, Steinberg, S J & Salomons, G 2015, ' Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1 ', Clinical Genetics, vol. 87, no. 2, pp. 141-147 . https://doi.org/10.1111/cge.12355
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell Publishing Ltdمصطلحات موضوعية: SDG 3 - Good Health and Well-being
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المؤلفون: Stöckler-Isiroglu, S, Mercimek-Mahmutoglu, S, Salomons, GS, Saudubray, J.M., Baumgartner, M., Walter, J.H.
المساهمون: Saudubray, J.M., Baumgartner, M., Walter, J.H., Clinical chemistry, Amsterdam Neuroscience - Cellular & Molecular Mechanisms
المصدر: Inborn Metabolic Diseases ISBN: 9783642157196
Stöckler-Isiroglu, S, Mercimek-Mahmutoglu, S & Salomons, GS 2016, Creatine deficiency syndromes . in J M Saudubray, M Baumgartner & J H Walter (eds), Metabolic Diseases : Diagnosis and Treatment . 6 edn, Springer-Verlag Berlin Heidelberg, Heidelberg, Berlin, Germany, pp. 243-248 . https://doi.org/10.1007/978-3-662-49771-5_15
Metabolic Diseases: Diagnosis and Treatment, 243-248
ISSUE=6;STARTPAGE=243;ENDPAGE=248;TITLE=Metabolic Diseases
Inborn Metabolic Diseases ISBN: 9783662497692
Neurobiology of Diseaseمصطلحات موضوعية: Creatinine, education.field_of_study, medicine.medical_specialty, Arginine, business.industry, Population, Ornithine, Creatine, medicine.disease, Guanidinoacetate N-methyltransferase, chemistry.chemical_compound, Epilepsy, Endocrinology, chemistry, Biochemistry, Internal medicine, medicine, Creatine Monohydrate, education, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::432ca07d7f3608447719f8d82d4b5150
https://doi.org/10.1007/978-3-642-15720-2_16 -
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المؤلفون: Arias, A, Fons-Estupina C, Sempere, A, Garcia-Villoria, J, Ormazabal-Herrero A, Poo, P, Pineda M, Vilaseca MA, Campistol-Plana J, Briones, P, Pampols, T, Salomons, GS, Ribes, A, Artuch-Iriberri R
المصدر: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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المؤلفون: Kort, Sandra, de Man, SA (Stella), Hoogeboom, Jeannette, Pouwels, PJW, VdK, MS, Verheijen - Mancini, Grazia, Salomons, GS
المساهمون: Pediatrics, Epidemiology, Clinical Genetics
المصدر: Tijdschrift voor Kindergeneeskunde, 74, 173-178. Bohn Stafleu van Loghum
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المؤلفون: Verheijen - Mancini, Grazia, Catsman - Berrevoets, Coriene, Coo, IFM, Aarsen, Femke, Kamphoven, Jozef, Huijmans, Jan, Duran, M (Marinus), van der Knaap, MS, Jakobs, C, Salomons, GS
المساهمون: Cell biology, Neurology, Pediatrics, General Practice, Clinical Genetics, Pediatric Surgery
المصدر: American Journal of Medical Genetics Part A, 132A(3), 288-295. Wiley-Liss Inc.
American Journal of Medical Genetics, 22, 288-295. Wiley-Liss Inc. -
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المؤلفون: Salomons, GS, van Dooren, SJM, van der Knapp, MS, Elting, MW, Ribes, A., Barić, Ivo, Holton, A., Neubauer, B., Korman, S., Rumenapf, T., Hennermann, Lee, C., Aydin, A., Vianey-Saban, C., Zafeiriou, DI, Suri, M., Coker, EM, Verhoeven, NM, Jakobs, C.
مصطلحات موضوعية: L-2-hydroxyglutaric aciduria, mutations, L-2-hydroxyglutarate dehydrogenase gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::a6c6aa6b87f29a31c940c67ab14032cd
https://www.bib.irb.hr/215011 -
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