-
1دورية أكاديمية
المؤلفون: Frankova, V, Driscoll, RO, Jansen, ME, Loeber, JG, Kozich, V, Bonham, J, Borde, P, Brincat, I, Cheillan, D, Dekkers, E, Fingerhut, R, Kus, IB, Girginoudis, P, Groselj, U, Hougaard, D, Knapkova, M, la Marca, G, Malniece, I, Nanu, MI, Nennstiel, U, Olkhovych, N, Oltarzewski, M, Pettersen, RD, Racz, G, Reinson, K, Salimbayeva, D, Songailiene, J, Vilarinho, L, Vogazianos, M, Zetterstrom, RH, Zeyda, M
المصدر: European journal of human genetics : EJHG. 29(1):67-78
مصطلحات موضوعية: Medicin och hälsovetenskap
-
2دورية أكاديمية
المؤلفون: Keller, R, Chrastina, P, Pavlikova, M, Gouveia, S, Ribes, A, Kolker, S, Blom, HJ, Baumgartner, MR, Bartl, J, Dionisi-Vici, C, Gleich, F, Morris, AA, Kozich, V, Huemer, M, Baric, I, Ben-Omran, T, Blasco-Alonso, J, Delgado, MA, Carducci, C, Cassanello, M, Cerone, R, Couce, ML, Crushell, E, Pecellin, CD, Dulin, E, Espada, M, Ferino, G, Fingerhut, R, Jimenez, IG, Gallego, IG, Gonzalez-Irazabal, Y, Gramer, G, Fita, MJJ, Karg, E, Klein, J, Konstantopoulou, V, la Marca, G, Teles, EL, Leuzzi, V, Lilliu, F, Lopez, RM, Lund, AM, Mayne, P, Meavilla, S, Moat, SJ, Okun, JG, Pasquini, E, Pedron-Giner, CC, Racz, GZ, Gomez, MAR, Vilarinho, L, Yahyaoui, R, Tansek, MZ, Zetterstrom, RH, Zeyda, M
المصدر: Journal of inherited metabolic disease. 42(1):128-139
مصطلحات موضوعية: Medicin och hälsovetenskap
-
3دورية أكاديمية
المؤلفون: Loeber, JG, Platis, D, Zetterström, RH, Almashanu, S, Boemer, F, Bonham, JR, Borde, P, Brincat, I, Cheillan, D, Dekkers, E, Dimitrov, D, Fingerhut, R, Franzson, L, Groselj, U, Hougaard, D, Knapkova, M, Kocova, M, Kotori, V, Kozich, V, Kremezna, A, Kurkijärvi, R, La Marca, G, Mikelsaar, R, Milenkovic, T, Mitkin, V, Moldovanu, F, Ceglarek, U, O'Grady, L, Oltarzewski, M, Pettersen, RD, Ramadza, D, Salimbayeva, D, Samardzic, M, Shamsiddinova, M, Songailiené, J, Szatmari, I, Tabatadze, N, Tezel, B, Toromanovic, A, Tovmasyan, I, Usurelu, N, Vevere, P, Vilarinho, L, Vogazianos, M, Yahyaoui, R, Zeyda, M, Schielen, PCJI
المصدر: International journal of neonatal screening. 7(1)
مصطلحات موضوعية: Medicin och hälsovetenskap
-
4دورية أكاديمية
المؤلفون: McHugh, DMS, Cameron, CA, Abdenur, JE, Abdulrahman, M, Adair, O, Al Nuaimi, SA, Ahlman, H, Allen, JJ, Antonozzi, I, Archer, S, Au, S, Auray-Blais, C, Baker, M, Bamforth, F, Beckmann, K, Pino, GB, Berberich, SL, Binard, R, Boemer, F, Bonham, J, Breen, NN, Bryant, SC, Caggana, M, Caldwell, SG, Camilot, M, Campbell, C, Carducci, C, Cariappa, R, Carlisle, C, Caruso, U, Cassanello, M, Castilla, AM, Ramos, DEC, Chakraborty, P, Chandrasekar, R, Ramos, AC, Cheillan, D, Chien, YH, Childs, TA, Chrastina, P, Sica, YC, de Juan, JAC, Colandre, ME, Espinoza, VC, Corso, G, Currier, R, Cyr, D, Czuczy, N, D'Apolito, O, Davis, T, de Sain-Van der Velden, MG, Pecellin, CD, Di Gangi, IM, Di Stefano, CM, Dotsikas, Y, Downing, M, Downs, SM, Dy, B, Dymerski, M, Rueda, I, Elvers, B, Eaton, R, Eckerd, BM, El Mougy, F, Eroh, S, Espada, M, Evans, C, Fawbush, S, Fijolek, KF, Fisher, L, Franzson, L, Frazier, DM, Garcia, LRC, Bermejo, MSGV, Gavrilov, D, Gerace, R, Giordano, G, Irazabal, YG, Greed, LC, Grier, R, Grycki, E, Gu, XF, Gulamali-Majid, F, Hagar, AF, Han, LS, Hannon, WH, Haslip, C, Hassan, FA, He, MA, Hietala, A, Himstedt, L, Hoffman, GL, Hoffman, W, Hoggatt, P, Hopkins, PV, Hougaard, DM, Hughes, K, Hunt, PR, Hwu, WL, Hynes, J, Ibarra-Gonzalez, I, Ingham, CA, Ivanova, M, Jacox, WB, John, C, Johnson, JP, Jonsson, JJ, Karg, E, Kasper, D, Klopper, B, Katakouzinos, D, Khneisser, I, Knoll, D, Kobayashi, H, Koneski, R, Kozich, V, Kouapei, R, Kohlmueller, D, Kremensky, I, la Marca, G, Lavochkin, M, Lee, SY, Lehotay, DC, Lemes, A, Lepage, J, Lesko, B, Lewis, B, Lim, C, Linard, S, Lindner, M, Lloyd-Puryear, MA, Lorey, F, Loukas, YL, Luedtke, J, Maffitt, N, Magee, JF, Manning, A, Manos, S, Marie, S, Hadachi, SM, Marquardt, G, Martin, SJ, Matern, D, Gibson, SKM, Mayne, P, McCallister, TD, McCann, M, McClure, J, McGill, JJ, McKeever, CD, McNeilly, B, Morrissey, MA, Moutsatsou, P, Mulcahy, EA, Nikoloudis, D, Norgaard-Pedersen, B, Oglesbee, D, Oltarzewski, M, Ombrone, D, Ojodu, J, Papakonstantinou, V, Reoyo, SP, Park, HD, Pasquali, M, Pasquini, E, Patel, P, Pass, KA, Peterson, C, Pettersen, RD, Pitt, JJ, Poh, S, Pollak, A, Porter, C, Poston, PA, Price, RW, Queijo, C, Quesada, J, Randell, E, Ranieri, E, Raymond, K, Reddic, JE, Reuben, A, Ricciardi, C, Rinaldo, P, Rivera, JD, Roberts, A, Rocha, H, Roche, G, Greenberg, CR, Mellado, JME, Juan-Fita, MJ, Ruiz, C, Ruoppolo, M, Rutledge, SL, Ryu, EJ, Saban, C, Sahai, I, Garcia-Blanco, MIS, Santiago-Borrero, P, Schenone, A, Schoos, R, Schweitzer, B, Scott, P, Seashore, MR, Seeterlin, MA, Sesser, DE, Sevier, DW, Shone, SM, Sinclair, G, Skrinska, VA, Stanley, EL, Strovel, ET, Jones, ALS, Sunny, S, Takats, Z, Tanyalcin, T, Teofoli, F, Thompson, JR, Tomashitis, K, Domingos, MT, Torres, J, Torres, R, Tortorelli, S, Turi, S, Turner, K, Tzanakos, N, Valiente, AG, Vallance, H, Vela-Amieva, M, Vilarinho, L, von Dobeln, U, Vincent, MF, Vorster, BC, Watson, MS, Webster, D, Weiss, S, Wilcken, B, Wiley, V, Williams, SK, Willis, SA, Woontner, M, Wright, K, Yahyaoui, R, Yamaguchi, S, Yssel, M, Zakowicz, WM
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 13(3):230-254
مصطلحات موضوعية: Medicin och hälsovetenskap
-
5دورية أكاديمية
المؤلفون: Heard, JM, Vrinten, C, Schlander, M, Bellettato, CM, van Lingen, C, Scarpa, M, Matthijs, G, Nassogne, MC, Debray, FG, Roland, D, Chamova, T, Kozich, V, Pavel, J, Zenker, M, Lampe, C, Das, AM, Hennermann, J, Kolker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, AM, Morales-Conejo, M, del Toro-Riera, M, Aldamiz-Echevarria, L, Garcia-Silva, MT, Schiff, M, Gouya, L, Labrune, P, de Lonlay, P, Belmatoug, N, Germain, DP, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Ramadza, DP, Baric, I, Zigman, T, Pflieger, G, Szakszon, K, Kaposta, R, Gasperini, S, Burlina, A, Parenti, G, Strisciuglio, P, Ceccarini, G, Federico, A, Simonati, A, Tumiene, B, Huidekoper, H, van Spronsen, F, Bosch, A, Rubio-Gozalbo, ME, Visser, G, Tangeraas, T, Aarsand, A, Kiec-Wilk, B, Gaspar, AMSM, Quelhas, D, Leao-Teles, E, Azevedo, O, Silva, EMFR, Matos, LMDFD, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, MZ
المصدر: Orphanet journal of rare diseases. 15(1):3
مصطلحات موضوعية: Medicin och hälsovetenskap
-
6دورية أكاديمية
المؤلفون: Mütze, U., Gleich, F., Garbade, S.F., Plisson, C., Aldámiz-Echevarría, L., Arrieta, F., Ballhausen, D., Zielonka, M., Petković Ramadža, D., Baumgartner, M.R., Cano, A., García Jiménez, M.C., Dionisi-Vici, C., Ješina, P., Blom, H.J., Couce, M.L., Meavilla Olivas, S., Mention, K., Mochel, F., Morris, AAM, Mundy, H., Redonnet-Vernhet, I., Santra, S., Schiff, M., Servais, A., Vitoria, I., Huemer, M., Kožich, V., Kölker, S.
المصدر: Journal of inherited metabolic disease, vol. 45, no. 4, pp. 719-733
مصطلحات موضوعية: Betaine/adverse effects, Cystathionine beta-Synthase, Homocysteine, Homocystinuria/drug therapy, Humans, Methylenetetrahydrofolate Reductase (NADPH2)/deficiency, Methylenetetrahydrofolate Reductase (NADPH2)/genetics, Muscle Spasticity, Psychotic Disorders, E-HOD, betaine anhydrous, homocystinuria, orphan drug, postauthorization safety study, public private partnership, rare disease
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35358327; info:eu-repo/semantics/altIdentifier/eissn/1573-2665; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5D5BE243D67D6; https://serval.unil.ch/notice/serval:BIB_5D5BE243D67DTest; urn:issn:0141-8955; https://serval.unil.ch/resource/serval:BIB_5D5BE243D67D.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5D5BE243D67D6Test
الإتاحة: https://doi.org/10.1002/jimd.12499Test
https://serval.unil.ch/notice/serval:BIB_5D5BE243D67DTest
https://serval.unil.ch/resource/serval:BIB_5D5BE243D67D.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5D5BE243D67D6Test -
7دورية أكاديمية
المؤلفون: Heard, JM, Bellettato, C, Lingen, C, Scarpa, M, Debray, FG, Nassogne, MC, van Coster, R, De Meirleir, L, Eyskens, F, Morava, E, Baric, I, Kozich, V, Lund, AM, Germain, D, Belmatoug, N, Guffon, N, Labrune, P, Gouya, L, De Lonlay, P, Schiff, M, Dobbelaere, D, Chabrol, B, Ploeckinger, U, Das, AM, Spiekerkoetter, U, Rutsch, F, Mohnike, K, Hahn, A, Kolker, S, Ullrich, K, Hennermann, J, Balogh, I, Bembi, B, Donati, MA, Gasperini, S, Parenti, G, Salviati, A, Vici, CD, Di Rocco, M, Cefalo, G, Burlina, A, Ceccarini, G, Federico, A, Van der Ploeg, A, Rubio-Gozalbo, ME, Van Spronsen, F, Visser, G, Bosch, A, Tangeraas, T, Sanderberg, S, Kiec-Wilk, B, Gaspar, AMSM, Martins, E, Silva, EMFR, Matos, LMDFD, Azevedo, O, Tansek, MZ, Couce-Pico, ML, Cazorla, AG, Azuara, LAE, Del Toro-Riera, M, Silva, MTG, Lajic, S, Darin, N, Deegan, P, Vijay, S, Chronopolou, E, Jones, S, Chakrapani, A, Hiwot, T
المصدر: Orphanet journal of rare diseases. 14(1):119
مصطلحات موضوعية: Medicin och hälsovetenskap
-
8دورية أكاديمية
المؤلفون: Brennenstuhl H., Nashawi M., Schroter J., Baronio F., Beedgen L., Gleich F., Jeltsch K., von Landenberg C., Martini S., Simon A., Thiel C., Tsiakas K., Opladen T., Kolker S., Hoffmann G. F., Haas D., Garcia-Cazorla A., Dionisi-Vici C., Martinelli D., Kozich V., Scarpa M.
المساهمون: Brennenstuhl H., Nashawi M., Schroter J., Baronio F., Beedgen L., Gleich F., Jeltsch K., von Landenberg C., Martini S., Simon A., Thiel C., Tsiakas K., Opladen T., Kolker S., Hoffmann G.F., Haas D., Garcia-Cazorla A., Dionisi-Vici C., Martinelli D., Kozich V., Scarpa M.
مصطلحات موضوعية: genotypic spectrum, HIDS, mevalonate, mevalonate kinase deficiency, mevalonic aciduria, phenotypic spectrum
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34145613; info:eu-repo/semantics/altIdentifier/wos/WOS:000667246700001; volume:44; issue:5; firstpage:1272; lastpage:1287; numberofpages:16; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11585/840819Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114693375
-
9دورية أكاديمية
المؤلفون: Morrison, T., Bösch, F., Landolt, M. A., Kožich, V., Huemer, M., Morris, A. A. M.
المساهمون: Nutricia Metabolics, Czech Health Research Council, General University Hospital in Prague
المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
-
10دورية أكاديمية
المؤلفون: Sikonja J., Groselj U., Scarpa M., la Marca G., Cheillan D., Kolker S., Zetterstrom R. H., Kozich V., Cam Y. L., Gumus G., Bottarelli V., van der Burg M., Dekkers E., Battelino T., Prevot J., Schielen P. C. J. I., Bonham J. R.
المساهمون: Sikonja, J., Groselj, U., Scarpa, M., la Marca, G., Cheillan, D., Kolker, S., Zetterstrom, R. H., Kozich, V., Cam, Y. L., Gumus, G., Bottarelli, V., van der Burg, M., Dekkers, E., Battelino, T., Prevot, J., Schielen, P. C. J. I., Bonham, J. R.
مصطلحات موضوعية: access inequality, Europe, meeting, NBS, newborn screening, rare disease, Slovenia
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000817627600001; volume:8; issue:2; firstpage:31; journal:INTERNATIONAL JOURNAL OF NEONATAL SCREENING; https://hdl.handle.net/11577/3486199Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85130203168