المؤلفون: Collet, M., Assouline, Z., Bonnet, D., Rio, M., Iserin, F., Sidi, D., Goldenberg, A., Lardennois, C., Metodiev, M.D., Haberberger, B., Haack, T.B., Munnich, A., Prokisch, H., Rotig, A.

المصدر: Eur. J. Hum. Genet., DOI:10.1038/ejhg.2015.264 (2015)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/26669660; info:eu-repo/semantics/altIdentifier/wos/undefined; info:eu-repo/semantics/altIdentifier/isbn/1018-4813; info:eu-repo/semantics/altIdentifier/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=47550; urn:isbn:1018-4813; urn:issn:1018-4813; urn:issn:1476-5438

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=47550
https://doi.org/10.1038/ejhg.2015.264

المؤلفون: Ashraf, S., Gee, H.Y., Woerner, S., Xie, L.T.X., Vega-Warner, V., Lovric, S., Fang, H., Song, X.W., Cattran, D.C., Avila-Casado, C., Paterson, A.D., Nitschke, P., Bole-Feysot, C., Cochat, P., Esteve-Rudd, J., Haberberger, B., Allen, S.J., Zhou, W.B., Airik, R., Otto, E.A., Barua, M., Al-Hamed, M.H., Kari, J.A., Evans, J., Bierzynska, A., Saleem, M.A., Bockenhauer, D., Kleta, R., El Desoky, S., Hacihamdioglu, D.O., Gok, F., Washburn, J., Wiggins, R.C., Choi, M., Lifton, R.P., Levy, S., Han, Z.G., Salviati, L., Prokisch, H., Williams, D.S., Pollak, M., Clarke, C.F., Pei, Y., Antignac, C., Hildebrandt, F.

المصدر: J. Clin. Invest. 123, 5179-5189 (2013)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/24270420; info:eu-repo/semantics/altIdentifier/wos/WOS:000327826100024; info:eu-repo/semantics/altIdentifier/isbn/0021-9738; info:eu-repo/semantics/altIdenti; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=28840; urn:isbn:0021-9738; urn:issn:0021-9738; urn:issn:1558-8238

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=28840
https://doi.org/10.1172/JCI69000

المؤلفون: Haack, T, Danhauser, K, Haberberger, B, Hoser, J, Strecker, V, Boehm, D, Uziel, G, Lamantea, E, Invernizzi, F, Poulton, J, Rolinski, B, Iuso, A, Biskup, S, Schmidt, T, Mewes, H, Wittig, I, Meitinger, T, Zeviani, M, Prokisch, H

Relation: https://ora.ox.ac.uk/objects/uuid:03fdd482-6107-48b8-888b-c999ac96f82e; https://doi.org/10.1038/ng.706

الاتاحة: https://doi.org/10.1038/ng.706
https://ora.ox.ac.uk/objects/uuid:03fdd482-6107-48b8-888b-c999ac96f82e

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., Sper 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.

المساهمون: 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., Sper, 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.

مصطلحات موضوعية: Amino Acid Substitution, Electron Transport Complex I, Gene Expression, Human, Mitochondrial Disease, Mutation, NADH Dehydrogenase, Exome, Sequence Analysis, DNA

Relation: info:eu-repo/semantics/altIdentifier/pmid/22499348; info:eu-repo/semantics/altIdentifier/wos/WOS:000302789800011; volume:49; issue:4; firstpage:277; lastpage:283; numberofpages:7; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11577/3354252; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84864082138

الاتاحة: http://hdl.handle.net/11577/3354252
https://doi.org/10.1136/jmedgenet-2012-100846

المؤلفون: Mayr J. A., Haack T. B., Graf E., Zimmermann F. A., Wieland T., Haberberger B., Superti-Furga A., Kirschner J., Steinmann B., Baumgartner M. R., Moroni I., Lamantea E., Zeviani M., Rodenburg R. J., Smeitink J., Strom T. M., Meitinger T., Sperl W., Prokisch H.

المساهمون: Mayr, J. A., Haack, T. B., Graf, E., Zimmermann, F. A., Wieland, T., Haberberger, B., Superti-Furga, A., Kirschner, J., Steinmann, B., Baumgartner, M. R., Moroni, I., Lamantea, E., Zeviani, M., Rodenburg, R. J., Smeitink, J., Strom, T. M., Meitinger, T., Sperl, W., Prokisch, H.

مصطلحات موضوعية: Adult, Allele, Cardiomyopathie, Cataract, Child, Exome, Female, Heterozygote, Human, Infant, Newborn, Male, Mitochondria, Mitochondrial ADP, ATP Translocase, Mitochondrial Protein, Muscle, Phenotype, Phospholipid, Phosphotransferases (Alcohol Group Acceptor), Young Adult, Codon, Nonsense

Relation: info:eu-repo/semantics/altIdentifier/pmid/22284826; info:eu-repo/semantics/altIdentifier/wos/WOS:000300742200013; volume:90; issue:2; firstpage:314; lastpage:320; numberofpages:7; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354256; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84857043743

الاتاحة: http://hdl.handle.net/11577/3354256
https://doi.org/10.1016/j.ajhg.2011.12.005

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.

المساهمون: 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.

مصطلحات موضوعية: DNA Mutational Analysi, Electron Transport Complex I, Genetic Heterogeneity, High-Throughput Screening Assay, Human, Mitochondrial Disease, NADH Dehydrogenase, Phenotype, Genes, Mitochondrial, Mutation

Relation: info:eu-repo/semantics/altIdentifier/pmid/22200994; info:eu-repo/semantics/altIdentifier/wos/WOS:000299308900004; volume:49; issue:2; firstpage:83; lastpage:89; numberofpages:7; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11577/3354258; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84855987219

الاتاحة: http://hdl.handle.net/11577/3354258
https://doi.org/10.1136/jmedgenet-2011-100577

المؤلفون: Schiff, M., Haberberger, B., Xia, C.P., Mohsen, A.W., Goetzman, E.S., Wang, Y., Uppala, R., Zhang, Y., Karunanidhi, A., Prabhu, D., Alharbi, H., Prochownik, E.V., Haack, T.B., Häberle, J., Munnich, A., Rotig, A., Taylor, R.W., Nicholls, R.D., Kim, J.J., Prokisch, H., Vockley, J.

المصدر: Hum. Mol. Genet. 24, 3238-3247 (2015)

Relation: info:eu-repo/semantics/altIdentifier/pmid/25721401; info:eu-repo/semantics/altIdentifier/wos/WOS:000355674000020; info:eu-repo/semantics/altIdentifier/isbn/0964-6906; info:eu-repo/semantics/altIden

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43518
https://doi.org/10.1093/hmg/ddv074

المؤلفون: Haack, T.B., Gorza, M., Danhauser, K., Mayr, J.A., Haberberger, B., Wieland, T., Kremer, L., Strecker, V., Graf, E., Memari, Y., Ahting, U., Kopajtich, R., Wortmann, S.B., Rodenburg, R.J.T., Kotzaeridou, U., Hoffmann, G.F., Sperl, W., Wittig, I., Wilichowski, E., Schottmann, G., Schuelke, M., Plecko, B., Stephani, U., Strom, T.M., Meitinger, T., Prokisch, H., Freisinger, P.

المصدر: Molecular Genetics and Metabolism, 111, 3, pp. 342-52

مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences

Relation: http://hdl.handle.net/2066/136512

الاتاحة: http://hdl.handle.net/2066/136512
https://doi.org/10.1016/j.ymgme.2013.12.010

المؤلفون: Jackson, C.B., Nuoffer, J.-M., Hahn, D., Prokisch, H., Haberberger, B., Gautschi, M., Häberli, A., Gallati, S., Schaller, A.

المصدر: J. Med. Genet. 51, 170-175 (2014)

Relation: info:eu-repo/semantics/altIdentifier/pmid/24367056; info:eu-repo/semantics/altIdentifier/wos/WOS:000333531400005; info:eu-repo/semantics/altIdentifier/isbn/0022-2593; info:eu-repo/semant; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=29084; urn:isbn:0022-2593; urn:issn:0022-2593; urn:issn:1468-6244

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=29084
https://doi.org/10.1136/jmedgenet-2013-101932

المؤلفون: Ashraf S, Gee HY, Woerner S, Xie LTX, Vega-Warner V, Lovric S, Fang H, Song XW, Cattran DC, Avila-Casado C, Paterson AD, Nitschke P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou WB, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Bockenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F

المصدر: Journal of Clinical Investigation, 01-12-2013

Relation: https://eprints.ncl.ac.uk/200045

الاتاحة: https://eprints.ncl.ac.uk/200045

المؤلفون: Freisinger, P, Haberberger, B, Strecker, V, Steger, M, Heim, K, Ahting, U, Rolinski, B, Mayr, J, Rötig, A, Sperl, W, Zeviani, M, Wittig, I, Meitinger, T, Prokisch, H

المساهمون: Institut für Humangenetik

مصطلحات موضوعية: info:eu-repo/classification/ddc

Relation: https://mediatum.ub.tum.de/1214666

الاتاحة: https://mediatum.ub.tum.de/1214666

المؤلفون: Haack, T.B., Rolinski, B., Haberberger, B., Zimmermann, F., Schum, J., Strecker, V., Graf, E., Athing, U., Hoppen, T., Wittig, I., Sperl, W., Freisinger, P., Mayr, J.A., Strom, T.M., Meitinger, T., Prokisch, H.

المصدر: J. Inherit. Metab. Dis. 36, 55-62 (2013)

Relation: info:eu-repo/semantics/altIdentifier/pmid/22562699; info:eu-repo/semantics/altIdentifier/wos/WOS:000313494500008; info:eu-repo/semantics/altIdentifier/isbn/0141-8955; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=11158; urn:isbn:0141-8955; urn:issn:0141-8955; urn:issn:1573-2665

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=11158
https://doi.org/10.1007/s10545-012-9489-7

المؤلفون: Kopajtich, R, Haack, T, Haberberger, B, Mayr, J, Sperl, W, Ahting, U, Freisinger, P, Rötig, A, Strom, T, Meitinger, T, Prokisch, H

المصدر: Neuropediatrics ; volume 44, issue 02 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0033-1337715
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0033-1337715

المؤلفون: Freisinger, P., Haberberger, B., Strecker, V., Steger, M., Heim, K., Ahting, U., Rolinski, B., Mayr, J., Rötig, A., Sperl, W., Zeviani, M., Wittig, I., Meitinger, T., Prokisch, H.

المصدر: Mitochondrion ; volume 13, issue 6, page 920-921 ; ISSN 1567-7249

الاتاحة: http://dx.doi.org/10.1016/j.mito.2013.07.060
https://api.elsevier.com/content/article/PII:S1567724913001591?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S1567724913001591?httpAccept=text/xml

المؤلفون: Ahting, U, Haack, TB, Haberberger, B, Mayr, JA, Zimmermann, F, Schum, J, Strecker, V, Graf, E, Hoppen, T, Wittig, I, Strom, T, Meitinger, T, Prokisch, H, Sperl, W, Freisinger, P, Rolinski, B

المساهمون: Institut für Humangenetik

مصطلحات موضوعية: info:eu-repo/classification/ddc

Relation: https://mediatum.ub.tum.de/1181515

الاتاحة: https://mediatum.ub.tum.de/1181515

المؤلفون: Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, 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: Journal of Medical Genetics, 26-12-2011

Relation: https://eprints.ncl.ac.uk/183232

الاتاحة: https://eprints.ncl.ac.uk/183232

المؤلفون: Haack, TB, Danhauser, K, Haberberger, B, Hoser, J, Uziel, G, Biskup, S, Rolinski, B, Schmidt, T, Wittig, I, Zeviani, M, Freisinger, P, Meitinger, T, Prokisch, H

المصدر: Neuropediatrics ; volume 42, issue S 01 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0031-1274045
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0031-1274045

المؤلفون: Prokisch⁎, H., Haack, T., Madignier, F., Danhauser, K., Haberberger, B., Freisinger, P., Rolinski, B., Horvath, R., Mayr, H., Sperl, W., Tesarova, M., Biskup, S., Boehm, D., Tiranti, V., Giovanetti, A., Garavalgia, B., Zeviani, M., Meitinger, T.

المصدر: Mitochondrion ; volume 11, issue 4, page 660 ; ISSN 1567-7249

الاتاحة: http://dx.doi.org/10.1016/j.mito.2011.03.075
https://api.elsevier.com/content/article/PII:S1567724911001139?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1567724911001139?httpAccept=text/plain

المؤلفون: Ashraf, S., Gee, H. Y., Woerner, S., Xie, L. X., Vega Warner, V., Lovric, S., Fang, H., Song, X., Cattran, D., Avila Casado, C., Paterson, A. D., Nitschke, P., Cochat, C. Bole F. e. y. s. o. t. P., Esteve Rudd, J., Haberberger, B., Allen, S. J., Zhou, W., Airik, R., Otto, E. A., Barua, M., Al Hamed, M. H., Kari, J. A., Evans, J., Bierzynska, A., Saleem, M. A., Bockenhauer, D., Kleta, R., El Desoky, S., Hacihamdioglu, D. O., Gok, F., Wiggins, R. C., Lifton, M. C. h. o. i. R. P., Levy, S., Han, Z., Salviati, Leonardo, Prokisch, H., Williams, D. S., Pollak, M., Clarke, C. F., Pei, Y., Antignac, C., Hildebrandt, F.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3657::10d7b6b4f70d617e0cde49b0f95fd3a8
http://hdl.handle.net/11577/2683930

المؤلفون: Mayr, J.A., Haack, T.B., Graf, E., Zimmermann, F.A., Wieland, T., Haberberger, B., Superti-Furga, A., Kirschner, J., Steinmann, B., Baumgartner, M.R., Moroni, I., Lamantea, E., Zeviani, M., Rodenburg, R.J.T., Smeitink, J., Strom, T.M., Meitinger, T., Sperl, W., Prokisch, H.

المصدر: American Journal of Human Genetics; 314; 320; 0002-9297; 2; 90; ~American Journal of Human Genetics~314~320~~~0002-9297~2~90~~

URL: http://hdl.handle.net/2066/108483