المؤلفون: Haack, T.B., Haberberger, B., Frisch, E.-M., Wieland, T., Iuso, A., Gorza, M., Strecker, V., Graf, E., Mayr, J.A., Herberg, U., Hennermann, J.B., Klopstock, T., Kuhn, K.A., Ahting, U., Sperl, W., Wilichowski, E., Hoffmann, G.F., Tesarova, M., Hansikova, H., Zeman, J., Plecko, B., Zeviani, M., Wittig, I., Strom, T.M., Schuelke, M., Freisinger, P., Meitinger, T., Prokisch, H.

المصدر: J. Med. Genet. 49, 277-283 (2012)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22499348; info:eu-repo/semantics/altIdentifier/wos/000302789800011; info:eu-repo/semantics/altIdentifier/isbn/0022-2593; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=7501Test; urn:isbn:0022-2593; urn:issn:0022-2593; urn:issn:1468-6244

الإتاحة: https://doi.org/10.1136/jmedgenet-2012-100846Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=7501Test

المؤلفون: Haack, T.B., Madignier, F., Herzer, M., Lamantea, E., Danhauser, K., Invernizzi, F., Koch, J., Freitag, M., Drost, R., Hillier, I., Haberberger, B., Mayr, J.A., Ahting, U., Tiranti, V., Rotig, A., Iuso, A., Horvath, R., Tesarova, M., Baric, I., Uziel, G., Rolinski, B., Sperl, W., Meitinger, T., Zeviani, M., Freisinger, P., Prokisch, H.

المصدر: J. Med. Genet. 49, 83-89 (2012)

مصطلحات موضوعية: mitochondrial-dna mutation, hereditary optic neuropathy, nadh-quinone oxidoreductase, leigh-syndrome, respiratory-chain, nd3 gene, missense mutation, assembly factor, disease, subunit

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22200994; info:eu-repo/semantics/altIdentifier/wos/WOS:000299308900004; info:eu-repo/semantics/altIdentifier/isbn/0022-2593; info:eu-repo/semant; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=7142Test; urn:isbn:0022-2593; urn:issn:0022-2593; urn:issn:1468-6244

الإتاحة: https://doi.org/10.1136/jmedgenet-2011-100577Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=7142Test

المؤلفون: Gai, X., Ghezzi, D., Johnson, M.A., Biagosch, C., Shamseldin, H.E., Haack, T.B., Reyes, A., Tsukikawa, M., Sheldon, C.A., Srinivasan, S., Gorza, M., Kremer, L.S., Wieland, T., Strom, T.M., Polyak, E., Place, E., Consugar, M., Ostrovsky, J., Vidoni, S., Robinson, A.J., Wong, L.J., Sondheimer, N., Salih, M.A., Al-Jishi, E., Raab, C.P., Bean, C., Furlan, F., Parini, R., Lamperti, C., Mayr, J.A., Konstantopoulou, V., Huemer, M.-T., Pierce, E.A., Meitinger, T., Freisinger, P., Sperl, W., Prokisch, H., Alkuraya, F.S., Falk, M.J., Zeviani, M.

المصدر: Am. J. Hum. Genet. 93, 482-495 (2013)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3474::db3c7afbca2e1df07644592b44bf4877Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=27457Test

المؤلفون: Mayr, J.A., Freisinger, P., Schlachter, K., Rolinski, B., Zimmermann, F.A., Scheffner, T., Haack, T.B., Koch, J., Ahting, U., Prokisch, H., Sperl, W.

المصدر: Am. J. Hum. Genet. 89, 806-812 (2011)

مصطلحات موضوعية: Basal ganglia disease, Wernicke encephalopathy, Mutations, Carrier, Bioti

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22152682; info:eu-repo/semantics/altIdentifier/wos/undefined; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics/altIdenti; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=6880Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2011.11.007Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=6880Test

المؤلفون: Mayr, J.A., Bodamer, O., Haack, T.B., Zimmermann, F.A., Madignier, F., Prokisch, H., Rauscher, C., Koch, J., Sperl, W.

المصدر: Mol. Genet. Metab. 103, 358-361 (2011)

مصطلحات موضوعية: Complex, NDUFA1, X-inactivation, Respiratory chain, Mitochondrial energy metabolism

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21596602; info:eu-repo/semantics/altIdentifier/wos/undefined; info:eu-repo/semantics/altIdentifier/isbn/1096-7192; info:eu-repo/semantics/altIdent; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=6750Test; urn:isbn:1096-7192; urn:issn:1096-7192

الإتاحة: https://doi.org/10.1016/j.ymgme.2011.04.010Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=6750Test

المؤلفون: Danhauser, K., Iuso, A., Haack, T.B., Freisinger, P., Brockmann, K., Mayr, J.A., Meitinger, T., Prokisch, H.

المصدر: Mol. Genet. Metab. 103, 161-166 (2011)

مصطلحات موضوعية: Mitochondrial disease, Complex I deficiency, NDUFS1, Lentiviral complementation, Leigh syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21458341; info:eu-repo/semantics/altIdentifier/wos/undefined; info:eu-repo/semantics/altIdentifier/isbn/1096-7192; info:eu-repo/semantics/altIdent; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=6708Test; urn:isbn:1096-7192; urn:issn:1096-7192

الإتاحة: https://doi.org/10.1016/j.ymgme.2011.03.004Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=6708Test

المؤلفون: Sperl, W., Prokisch, H., Karall, D., Mayr, J.A., Freisinger, P.

المصدر: Monatsschrift Kinderheilkunde ; volume 159, issue 9, page 848-854 ; ISSN 0026-9298 1433-0474

مصطلحات موضوعية: Surgery, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s00112-011-2447-xTest

المؤلفون: Herzer, M., Koch, J., Prokisch, H., Rodenburg, R.J.T., Rauscher, C., Radauer, W., Forstner, R., Pilz, P., Rolinski, B., Freisinger, P., Mayr, J.A., Sperl, W.

المصدر: Neuropediatrics, 41, 1, pp. 30-4

مصطلحات موضوعية: IGMD 8: Mitochondrial medicine

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/87232/87232.pdfTest; http://hdl.handle.net/2066/87232Test

الإتاحة: https://doi.org/10.1055/s-0030-1255062Test
http://hdl.handle.net/2066/87232Test
https://repository.ubn.ru.nl//bitstream/handle/2066/87232/87232.pdfTest

المؤلفون: Sperl, W., Koch, J., Rauscher, C., Zschocke, J., Fauth, C., Mayr, J.A.

المصدر: Mitochondrion ; volume 10, issue 2, page 241 ; ISSN 1567-7249

مصطلحات موضوعية: Cell Biology, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.mito.2009.12.137Test
https://api.elsevier.com/content/article/PII:S1567724909003250?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1567724909003250?httpAccept=text/plainTest

المؤلفون: Sperl, W., Bodamer, O., Möslinger, D., Koch, J., Tesarova, M., Zeman, J., Houstek, J., Kmoch, S., Mayr, J.A.

المصدر: Mitochondrion ; volume 10, issue 2, page 241 ; ISSN 1567-7249

مصطلحات موضوعية: Cell Biology, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.mito.2009.12.138Test
https://api.elsevier.com/content/article/PII:S1567724909003262?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1567724909003262?httpAccept=text/plainTest