المؤلفون: Smith, C.E.L., Laugel-Haushalter, V., Hany, U., Best, S., Taylor, R.L., Poulter, J.A., Wortmann, S.B., Feichtinger, R.G., Mayr, J.A., Al Bahlani, S., Nikolopoulos, G., Rigby, A., Black, G.C., Watson, C.M., Mansour, S., Inglehearn, C.F., Mighell, A.J., Bloch-Zupan, A.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/212916/1/jmg-2023-109728.full.pdfTest; Smith, C.E.L. orcid.org/0000-0001-8320-5105 , Laugel-Haushalter, V., Hany, U. orcid.org/0000-0002-4486-1625 et al. (15 more authors) (2024) Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability. Journal of Medical Genetics. ISSN 0022-2593

الإتاحة: https://eprints.whiterose.ac.uk/212916Test/
https://eprints.whiterose.ac.uk/212916/1/jmg-2023-109728.full.pdfTest

المؤلفون: Vogel, G.F., Feichtinger, R.G., Mayr, J.A., Wortmann, S.B.

المصدر: Genetics in Medicine, 26, 3, pp. 101040

مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders Paediatrics

العلاقة: https://repository.ubn.ru.nl/handle/2066/305099Test

الإتاحة: https://doi.org/10.1016/j.gim.2023.101040Test
https://repository.ubn.ru.nl/handle/2066/305099Test

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

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.015Test
https://hdl.handle.net/11454/79548Test

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

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.015Test
https://hdl.handle.net/11454/84771Test

المؤلفون: Kaiyrzhanov, R., Mohammed, S.E.M., Maroofian, R., Husain, R.A., Catania, A., Torraco, A., Alahmad, A., Dutra-Clarke, M., Grønborg, S., Sudarsanam, A., Vogt, J., Arrigoni, F., Baptista, J., Haider, S., Feichtinger, R.G., Bernardi, P., Zulian, A., Gusic, M., Efthymiou, S., Bai, R., Bibi, F., Horga, A., Martinez-Agosto, J.A., Lam, A., Manole, A., Rodriguez, D.P., Durigon, R., Pyle, A., Albash, B., Dionisi-Vici, C., Murphy, D., Martinelli, D., Bugiardini, E., Allis, K., Lamperti, C., Reipert, S., Risom, L., Laugwitz, L., Di Nottia, M., McFarland, R., Vilarinho, L., Hanna, M., Prokisch, H., Mayr, J.A., Bertini, E.S., Ghezzi, D., Østergaard, E., Wortmann, S., Carrozzo, R., Haack, T.B., Taylor, R.W., Spinazzola, A., Nowikovsky, K., Houlden, H.

المصدر: Am. J. Hum. Genet. 109, 1692-1712 (2022)

مصطلحات موضوعية: Genetics, Letm1, Mitochondria, Mitochondrial Diseases, Neurodegeneration, Neurology, Oxidative Phosphorylation, Potassium Transport, Volume Homeostasis, Wolf-hirschhorn Syndrome

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36055214; info:eu-repo/semantics/altIdentifier/wos/WOS:000877624100011; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66080Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.07.007Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66080Test

المؤلفون: Yépez, V.A., Gusic, M., Kopajtich, R., Mertes, C., Smith, N.H., Alston, C.L., Ban, R., Beblo, S., Berutti, R., Blessing, H., Ciara, E., Distelmaier, F., Freisinger, P., Häberle, J., Hayflick, S.J., Hempel, M., Itkis, Y.S., Kishita, Y., Klopstock, T., Krylova, T.D., Lamperti, C., Lenz, D., Makowski, C., Mosegaard, S., Müller, M.F., Muñoz-Pujol, G., Nadel, A., Ohtake, A., Okazaki, Y., Procopio, E., Schwarzmayr, T., Smet, J., Staufner, C., Stenton, S., Strom, T.-M., Terrile, C., Tort, F., van Coster, R., Vanlander, A., Wagner, M., Xu, M., Fang, F., Ghezzi, D., Mayr, J.A., Piekutowska-Abramczuk, D., Ribes, A., Rötig, A., Taylor, R.W., Wortmann, S.B., Murayama, K., Meitinger, T., Gagneur, J., Prokisch, H.

المصدر: Genome Med. 14:38 (2022)

مصطلحات موضوعية: Genetic Diagnostics, Mendelian Diseases, Rna-seq

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35379322; info:eu-repo/semantics/altIdentifier/wos/WOS:000778002100001; info:eu-repo/semantics/altIdentifier/isbn/1756-994X; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64742Test; urn:isbn:1756-994X; urn:issn:1756-994X

الإتاحة: https://doi.org/10.1186/s13073-022-01019-9Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64742Test

المؤلفون: Inak, G., Rybak-Wolf, A., Lisowski, P., Pentimalli, T.M., Jüttner, R., Glažar, P., Uppal, K., Bottani, E., Brunetti, D., Secker, C., Zink, A., Meierhofer, D., Henke, M.T., Dey, M., Ciptasari, U., Mlody, B., Hahn, T., Berruezo-Llacuna, M., Karaiskos, N., Di Virgilio, M., Mayr, J.A., Wortmann, S.B., Priller, J., Gotthardt, M., Jones, D.P., Mayatepek, E., Stenzel, W., Diecke, S., Kühn, R., Wanker, E.E., Rajewsky, N., Schuelke, M., Prigione, A.

مصطلحات موضوعية: Cardiovascular and Metabolic Diseases, Cancer Research, Function and Dysfunction of the Nervous System, Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine, Topic 2: Molecular Processes and Therapies, Topic 3: Integrative Biomedicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/20132/1/20132oa.pdfTest; http://edoc.mdc-berlin.de/20132/7/20132suppl.zipTest; Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. Inak, G. and Rybak-Wolf, A. and Lisowski, P. and Pentimalli, T.M. and Jüttner, R. and Glažar, P. and Uppal, K. and Bottani, E. and Brunetti, D. and Secker, C. and Zink, A. and Meierhofer, D. and Henke, M.T. and Dey, M. and Ciptasari, U. and Mlody, B. and Hahn, T. and Berruezo-Llacuna, M. and Karaiskos, N. and Di Virgilio, M. and Mayr, J.A. and Wortmann, S.B. and Priller, J. and Gotthardt, M. and Jones, D.P. and Mayatepek, E. and Stenzel, W. and Diecke, S. and Kühn, R. and Wanker, E.E. and Rajewsky, N. and Schuelke, M. and Prigione, A. Nature Communications 12 (1): 1929. 26 March 2021

الإتاحة: https://doi.org/10.1038/s41467-021-22117-zTest
http://edoc.mdc-berlin.de/20132Test/
https://edoc.mdc-berlin.de/20132Test/
http://edoc.mdc-berlin.de/20132/1/20132oa.pdfTest
http://edoc.mdc-berlin.de/20132/7/20132suppl.zipTest

المؤلفون: Vidali, S., Gerlini, R., Thompson, K., Urquhart, J.E., Meisterknecht, J., Aguilar-Pimentel, J.A., Amarie, O.V., Becker, L., Breen, C., Calzada-Wack, J., Chhabra, N.F., Cho, Y.-L., da Silva Buttkus, P., Feichtinger, R.G., Gampe, K., Garrett, L., Hoefig, K.P., Hölter, S.M., Jameson, E., Klein-Rodewald, T., Leuchtenberger, S., Marschall, S., Mayer-Kuckuk, P., Miller, G., Oestereicher, M.A., Pfannes, K., Rathkolb, B., Rozman, J., Sanders, C., Spielmann, N., Stöger, C., Szibor, M., Treise, I., Walter, J.H., Wurst, W., Mayr, J.A., Fuchs, H., Gärtner, U., Wittig, I., Taylor, R.W., Newman, W.G., Prokisch, H., Gailus-Durner, V., Hrabě de Angelis, M.

المصدر: EMBO Mol. Med.:e14397 (2021)

مصطلحات موضوعية: Complex Iii, Mitochondrial Disease, Mouse Model, Oxphos, Uqcrh

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34750991; info:eu-repo/semantics/altIdentifier/wos/WOS:000715894100001; info:eu-repo/semantics/altIdentifier/isbn/1757-4676; info:eu-repo/semantics/al; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63495Test; urn:isbn:1757-4676; urn:issn:1757-4676; urn:issn:1757-4684

الإتاحة: https://doi.org/10.15252/emmm.202114397Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63495Test

المؤلفون: El-Gazzar, A., Mayr, J.A., Voraberger, B., Brügger, K., Blouin, S., Tischlinger, K., Duba, H.C., Prokisch, H., Fratzl-Zelman, N., Högler, W.

المصدر: Bone Rep. 15:101110 (2021)

مصطلحات موضوعية: Bone Fragility, Cryptic Splice Site, Mutation, Osteogenesis Imperfecta, Type I Collagen, Whole Exome Sequencing

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34381850; info:eu-repo/semantics/altIdentifier/isbn/2352-1872; info:eu-repo/semantics/altIdentifier/pissn/2352-1872; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62701Test; urn:isbn:2352-1872; urn:issn:2352-1872

الإتاحة: https://doi.org/10.1016/j.bonr.2021.101110Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62701Test

المؤلفون: Wortmann, S.B., Zietkiewicz, S., Guerrero-Castillo, S., Feichtinger, R.G., Wagner, M., Russell, J., Ellaway, C., Mróz, D., Wyszkowski, H., Weis, D., Hannibal, I., von Stülpnagel, C., Cabrera-Orefice, A., Lichter-Konecki, U., Gaesser, J., Windreich, R., Myers, K.C., Lorsbach, R., Dale, R.C., Gersting, S., Prada, C.E., Christodoulou, J., Wolf, N.I., Venselaar, H., Mayr, J.A., Wevers, R.A.

المصدر: Genet. Med. 23, 1705-1714 (2021)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34140661; info:eu-repo/semantics/altIdentifier/wos/WOS:000662828300001; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62326Test; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

الإتاحة: https://doi.org/10.1038/s41436-021-01194-xTest
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62326Test