المؤلفون: Kim J., Hu C., El Achkar C. M., Black L. E., Douville J., Larson A., Pendergast M. K., Goldkind S. F., Lee E. A., Kuniholm A., Soucy A., Vaze J., Belur N. R., Fredriksen K., Stojkovska I., Tsytsykova A., Armant M., DiDonato R. L., Choi J., Cornelissen L., Pereira L. M., Augustine E. F., Genetti C. A., Dies K., Barton B., Williams L., Goodlett B. D., Riley B. L., Pasternak A., Berry E. R., Pflock K. A., Chu S., Reed C., Tyndall K., Agrawal P. B., Beggs A. H., Grant P. E., Urion D. K., Snyder R. O., Waisbren S. E., Poduri A., Park P. J., Patterson A., Biffi A., Mazzulli J. R., Bodamer O., Berde C. B., Yu T. W.

المساهمون: Kim, J., Hu, C., El Achkar, C. M., Black, L. E., Douville, J., Larson, A., Pendergast, M. K., Goldkind, S. F., Lee, E. A., Kuniholm, A., Soucy, A., Vaze, J., Belur, N. R., Fredriksen, K., Stojkovska, I., Tsytsykova, A., Armant, M., Didonato, R. L., Choi, J., Cornelissen, L., Pereira, L. M., Augustine, E. F., Genetti, C. A., Dies, K., Barton, B., Williams, L., Goodlett, B. D., Riley, B. L., Pasternak, A., Berry, E. R., Pflock, K. A., Chu, S., Reed, C., Tyndall, K., Agrawal, P. B., Beggs, A. H., Grant, P. E., Urion, D. K., Snyder, R. O., Waisbren, S. E., Poduri, A., Park, P. J., Patterson, A., Biffi, A., Mazzulli, J. R., Bodamer, O., Berde, C. B., Yu, T. W.

مصطلحات موضوعية: Biopsy, Child, Child Development, Drug Discovery, Drugs, Investigational, Electroencephalography, Female, Human, Membrane Transport Protein, Neuronal Ceroid-Lipofuscinose, Neuropsychological Test, Oligonucleotides, Antisense, RNA, Messenger, Rare Disease, Seizure, Skin, Whole Genome Sequencing, Mutagenesis, Insertional, Precision Medicine

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31597037; info:eu-repo/semantics/altIdentifier/wos/WOS:000494692200008; volume:381; issue:17; firstpage:1644; lastpage:1652; numberofpages:9; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11577/3317961Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074118305; http://www.nejm.org/medical-indexTest

الإتاحة: https://doi.org/10.1056/NEJMoa1813279Test
http://hdl.handle.net/11577/3317961Test
http://www.nejm.org/medical-indexTest

المؤلفون: Blakely, E., Brown, C., Bodamer, O., Levy, H., Feldman, H., Connolly, R., Moseley, K., Boulanger, V., Seebald, A., Rossov, S., Milligan, K., Radtchenko, J.

المصدر: Value in Health ; volume 22, page S348 ; ISSN 1098-3015

مصطلحات موضوعية: Public Health, Environmental and Occupational Health, Health Policy

الإتاحة: https://doi.org/10.1016/j.jval.2019.04.1701Test
https://api.elsevier.com/content/article/PII:S1098301519318935?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098301519318935?httpAccept=text/plainTest

المؤلفون: Scarpa, M, Almassy, Z, Beck, M, Bodamer, O, Bruce, IA, De Meirleir, L, Guffon, N, Guillen-Navarro, E, Hensman, P, Jones, S, Kamin, W, Kampmann, C, Lampe, C, Lavery, CA, Teles, EL, Link, B, Lund, AM, Malm, G, Pitz, S, Rothera, M, Stewart, C, Tylki-Szymanska, A, van der Ploeg, A, Walker, R, Zeman, J, Wraith, JE

المصدر: Orphanet journal of rare diseases. 6:72

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:123653336Test

المؤلفون: Mendelsohn, NJ, Harmatz, P, Bodamer, O, Burton, BK, Giugliani, R, Jones, SA, Lampe, C, Malm, G, Steiner, RD, Parini, R

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 12(12):816-822

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:121746412Test

المؤلفون: Tzakis, A.G., Nunnelley, M.J., Tekin, A., Buccini, L.D., Garcia, J., Uchida, K., Neville, H.L., Nares, M.A., Ruiz, P., Bodamer, O.

المصدر: American Journal of Transplantation ; volume 15, issue 2, page 565-567 ; ISSN 1600-6135

الإتاحة: https://doi.org/10.1111/ajt.13005Test
https://api.elsevier.com/content/article/PII:S1600613522000466?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1600613522000466?httpAccept=text/plainTest

المؤلفون: Kummeling, J., Stremmelaar, D.E., Raun, N., Reijnders, M.R., Willemsen, M.H., Ruiterkamp-Versteeg, M., Schepens, M.T.M., Man, C.C.O., Gilissen, C.F.H.A., Cho, M.T., McWalter, K., Sinnema, M., Wheless, J.W., Simon, M.E., Genetti, C.A., Casey, A.M., Terhal, P.A., Smagt, J.J. van der, Gassen, K.L.I. van, Joset, P., Bahr, A., Steindl, K., Rauch, A., Keller, E., Raas-Rothschild, A., Koolen, D.A., Agrawal, P.B., Hoffman, T.L., Powell-Hamilton, N.N., Thiffault, I., Engleman, K., Zhou, D., Bodamer, O., Hoefele, J., Riedhammer, K.M., Schwaibold, E.M.C., Tasic, V., Schubert, D., Top, D., Pfundt, R.P., Higgs, M.R., Kramer, J.M., Kleefstra, T.

المصدر: Molecular Psychiatry, 26, 6, pp. 2013-2024

مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl/handle/2066/237819Test

الإتاحة: https://doi.org/10.1038/s41380-020-0725-5Test
https://repository.ubn.ru.nl/handle/2066/237819Test

المؤلفون: Maier, E. M., Parbel, S., Schwahn, B., Wijburg, F. A., Hoffmann, G. F., Das, A. M., Koelker, S., Hoerster, F., DeKlerk, J. B. C., GÖKÇAY, Gülden Fatma, Gruenewald, S., Guffon, N., Morava, E., Zwickler, T., Lindner, M., Aydin, H., Baumgartner, M. R., Bodamer, O., Burlina, A., Walter, J. H., Wendel, U.

المساهمون: 2771764

مصطلحات موضوعية: Research and Theory, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Klinik Tıp (MED), GENETİK VE HAYAT, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Tıbbi Genetik, Tıbbi Ekoloji ve Hidroklimatoloji, Yaşam Bilimleri, Temel Bilimler, Genetics, Endocrinology, Molecular Biology, Endocrine and Autonomic Systems, Reviews and References (medical), Genetics (clinical), Diabetes and Metabolism, Life Sciences, Health Sciences

العلاقة: JOURNAL OF INHERITED METABOLIC DISEASE; Zwickler T., Lindner M., Aydin H., Baumgartner M. R. , Bodamer O., Burlina A., Das A. M. , DeKlerk J. B. C. , GÖKÇAY G. F. , Gruenewald S., et al., "Current diagnostic and therapeutic strategies in isolated methylmalonic acidurias - Results from 16 European metabolic centres", JOURNAL OF INHERITED METABOLIC DISEASE, cilt.30, ss.34, 2007; vv_1032021; av_a6b2fd21-e534-4169-8644-e2d549716e6a; http://hdl.handle.net/20.500.12627/173184Test; 30; 34

الإتاحة: https://doi.org/20.500.12627/173184Test
https://hdl.handle.net/20.500.12627/173184Test

المؤلفون: Garbade, S. F., Zwickler, T., Baumgartner, M. R., Burlina, A. B., Bodamer, O. A., Das, A. M., deKlerk, J. B. C., Dionisi-Vici, C., Gruenewald, S., Guffon, N., Morava, E., Geb, S., Walter, J. H., Wendel, U., Wijburg, F. A., Lindner, M., Koelker, S., Goekcay, G., Aydin, H., Hoerster, F., Maier, E. M.

المساهمون: Ruprecht Karls University Heidelberg ,, 189181

مصطلحات موضوعية: Moleküler Biyoloji ve Genetik, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Klinik Tıp (MED), GENETİK VE HAYAT, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Tıbbi Genetik, Tıbbi Ekoloji ve Hidroklimatoloji, Yaşam Bilimleri, Temel Bilimler

العلاقة: JOURNAL OF INHERITED METABOLIC DISEASE; Hoerster F., Garbade S. F. , Zwickler T., Aydin H., Baumgartner M. R. , Burlina A. B. , Bodamer O. A. , Das A. M. , deKlerk J. B. C. , Dionisi-Vici C., et al., "Implication of birth cohort, age at onset, enzymatic subgroup and cobalamin responsiveness on long-term outcome in isolated methylmalonic acidurias", JOURNAL OF INHERITED METABOLIC DISEASE, cilt.31, ss.22, 2008; av_7094c1c1-9dc0-4b48-8869-44bbdc9f6aa8; vv_1032021; http://hdl.handle.net/20.500.12627/77585Test; 31; 22

الإتاحة: https://doi.org/20.500.12627/77585Test
https://hdl.handle.net/20.500.12627/77585Test

المؤلفون: Hughes, DA, Al-Sayed, M, Belmatoug, N, Bodamer, O, Bottcher, T, Cappellini, M, Cohen, IJ, Eagleton, T, Elstein, D, Giraldo, P, Jones, S, Kaplinsky, C, Lund, A, Machaczka, M, Mengel, E, Pastores, GM, Rosenbaum, H, Sjo, M, Tiling, N, Tsaftaridis, P, Zimran, A, Weinreb, N

المصدر: Blood cells, molecules & diseases. 47(2):140-142

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:123034830Test

المؤلفون: Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N

المساهمون: Adam, Mp, Banka, S, Bjornsson, Ht, Bodamer, O, Chudley, Ae, Harris, J, Kawame, H, Lanpher, Bc, Lindsley, Aw, Merla, G, Miyake, N, Okamoto, N, Stumpel, Ct, Niikawa, N

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000467759200005; volume:56; issue:2; firstpage:89; lastpage:95; numberofpages:7; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11588/873934Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85058054726

الإتاحة: https://doi.org/10.1136/jmedgenet-2018-105625Test
http://hdl.handle.net/11588/873934Test