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1دورية أكاديمية
المؤلفون: Mozer-Glassberg Y., Vogel G.F., Landau Y.E., Schlieben L.D., Prokisch H., Feichtinger R.G., Mayr J.A.
مصطلحات موضوعية: Cysteine, Acute liver failure, Liver transplantation, Mitochondrial disease, Treatment
العلاقة: Genetics in Medicine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/79548Test; https://doi.org/10.1016/j.gim.2022.09.015Test
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2دورية أكاديمية
المؤلفون: Vogel G.F., Mozer-Glassberg Y., Landau Y.E., Schlieben L.D., Prokisch H., Feichtinger R.G., Mayr J.A.
مصطلحات موضوعية: Acute liver failure, Cysteine, Liver transplantation, Mitochondrial disease, Treatment
العلاقة: Genetics in Medicine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1016/j.gim.2022.09.015Test; https://hdl.handle.net/11454/84771Test; 2-s2.0-85140967450
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3دورية أكاديمية
المؤلفون: Vogel, G.F., Mozer-Glassberg, Y., Landau, Y.E., Schlieben, L.D., Prokisch, H., Feichtinger, R.G., Mayr, J.A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F.S., Baker, J.J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A.M., Darin, N., Marina, A. Della, Distelmaier, F., Eklund, E.A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R.D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M.G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, Heidi, Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R.W., Thorburn, D.R., Teles, E.L., Wang, J.S., Weghuber, D., Wortmann, S.B.
المصدر: Genetics in Medicine, 25, 6
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 6: Metabolic Disorders Paediatrics
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/293495/293495.pdfTest; https://repository.ubn.ru.nl/handle/2066/293495Test
الإتاحة: https://doi.org/10.1016/j.gim.2022.09.015Test
https://repository.ubn.ru.nl//bitstream/handle/2066/293495/293495.pdfTest
https://repository.ubn.ru.nl/handle/2066/293495Test -
4دورية أكاديمية
المؤلفون: Rubio-Gozalbo, M.E. (Estela), Haskovic, M., van den Bosch, A.M., Burnyte, B., Coelho, A.I., Cassiman, D, Couce, ML, Dawson, C., Demirbas, D., Derks, T., Eyskens, F. (François), Forga, M.T., Grünewald, S. (Sonja), Häberle, J. (Johannes), Hochuli, M. (Michel), Hubert, A., Huidekoper, H.H., Janeiro, P., Kotzka, J., Knerr, I. (Ina), Labrune, P., Landau, Y.E., Langendonk, J.G. (Janneke), Moeslinger, D., Mueller-Wieland, D., Murphy, E. (Elaine), Õunap, K. (Katrin), Ramadza, D., Rivera, I.A., Scholl-Buergi, S., Stepien, K.M., Thijs, A., Tran, C., Vara, R, Visser, G., Vos, R.O., Vries, M. (Marieke) de, Waisbren, S.E., Welsink-Karssies, M.M., Wortmann, S.B. (S.), Gautschi, M. (Matthias), Treacy, E.P., Berry, G.T.
المصدر: Orphanet Journal of Rare Diseases vol. 14
مصطلحات موضوعية: Registry, Natural history, Galactosemia, GALT deficiency, Galactosemia network
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/116995Test; urn:hdl:1765/116995
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5دورية أكاديمية
المؤلفون: Rubio-Gozalbo, M.E., Haskovic, M., Bosch, A.M., Burnyte, B., Coelho, A.I., Cassiman, D., Couce, M.L., Dawson, C., Demirbas, D., Derks, T., Eyskens, François, Forga, M.T., Grunewald, S., Haberle, J., Hochuli, M., Hubert, A., Huidekoper, H.H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y.E., Langendonk, J.G., Moeslinger, D., Mueller-Wieland, D., Murphy, E., Ounap, K., Ramadza, D., Rivera, I.A., Scholl-Buergi, S., Stepien, K.M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., de Vries, M., Waisbren, S.E., Welsink-Karssies, M.M., Wortmann, S.B., Gautschi, M., Treacy, E.P., Berry, G.T.
المصدر: 1750-1172 ; Orphanet journal of rare diseases
مصطلحات موضوعية: Human medicine
العلاقة: info:eu-repo/semantics/altIdentifier/isi/000466906200001
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6دورية أكاديمية
المؤلفون: Rubio-Gozalbo, M.E., Haskovic, M., Bosch, A.M., Burnyte, B., Coelho, A.I., Cassiman, D., Couce, M.L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M.T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H.H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y.E., Langendonk, J.G., Möslinger, D., Müller-Wieland, D.
مصطلحات موضوعية: Registry, Natural history, Galactosemia, GALT deficiency, Galactosemia network
جغرافية الموضوع: UMW:14638
وصف الملف: text/html
العلاقة: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-33992/128Test; urn:nbn:at:at-ubmuw:3-33992; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-33992Test; local:99145821106403331; system:AC16121621
الإتاحة: https://doi.org/10.1186/s13023-019-1047-zTest
https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-33992Test -
7دورية أكاديمية
المؤلفون: Ardon, O., Procter, M., Mao, R., Longo, N., Landau, Y.E., Shilon-Hadass, A., Gabis, L.V., Hoffmann, C., Tzadok, M., Heimer, G., Sada, S., Ben-Zeev, B., Anikster, Y.
المصدر: Molecular Genetics and Metabolism Reports ; volume 8, page 20-23 ; ISSN 2214-4269
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1016/j.ymgmr.2016.06.005Test
https://api.elsevier.com/content/article/PII:S2214426916300453?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S2214426916300453?httpAccept=text/xmlTest -
8دورية أكاديمية
المؤلفون: Rodríguez-Palmero, A., Boerrigter, M.M., Gómez-Andrés, D., Aldinger, K.A., Marcos-Alcalde, Í., Popp, B., Everman, D.B., Lovgren, A.K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A.M., Bjerregaard, V.A., Bruel, A.L., Challman, T.D., Cogné, B., Coubes, C., Man, S.A. de, Denommé-Pichon, A.S., Dye, T.J., Elmslie, F., Feuk, L., García-Miñaúr, S., Gertler, T., Giorgio, E., Gruchy, N., Haack, T.B., Haldeman-Englert, C.R., Haukanes, B.I., Hoyer, J., Hurst, A.C.E., Isidor, B., Soller, M.J., Kushary, S., Kvarnung, M., Landau, Y.E., Leppig, K.A., Lindstrand, A., Kleinendorst, L., Mackenzie, A., Mandrile, G., Mendelsohn, B.A., Moghadasi, S., Morton, J.E., Moutton, S., Müller, A.J., O'Leary, M., Pacio-Míguez, M., Palomares-Bralo, M., Parikh, S., Pfundt, R., Pode-Shakked, B., Rauch, A., Repnikova, E., Revah-Politi, A., Ross, M.J., Ruivenkamp, C.A.L., Sarrazin, E., Savatt, J.M., Schlüter, A., Schönewolf-Greulich, B., Shad, Z., Shaw-Smith, C., Shieh, J.T., Shohat, M., Spranger, S., Thiese, H., Mau-Them, F.T., Bon, B. van, Burgt, I. van der, Laar, I. van de, Drie, E. van, Haelst, M.M. van, Ravenswaaij-Arts, C.M.A. van, Verdura, E., Vitobello, A., Waldmüller, S., Whiting, S., Zweier, C., Prada, C.E., Vries, B.B. de, Dobyns, W.B., Reiter, S.F., Gómez-Puertas, P., Pujol, A., Tümer, Z.
المصدر: Genetics in Medicine, 23, 5, pp. 888-899
مصطلحات موضوعية: Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
الإتاحة: https://doi.org/10.1038/s41436-020-01075-9Test
https://repository.ubn.ru.nl/handle/2066/245031Test -
9دورية أكاديمية
المؤلفون: Landau, Y.E, Gross-Tsur, V., Auerbach, J., Van der Meere, J.J., Shalev, R.S
المصدر: Landau , Y E , Gross-Tsur , V , Auerbach , J , Van der Meere , J J & Shalev , R S 1999 , ' Attention deficit hyperactivity disorder and nonverbal learning disabilities ' , Journal of Child Neurology , vol. 14 , pp. 299 - 303 .
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