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: 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: 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

المؤلفون: Schänzer, A., Achleitner, M., Trümbach, D., Hubert, L., Munnich, A., Ahlemeyer, B., AlAbdulrahim, M.M., Greif, P.A., Vosberg, S., Hummer, B., Feichtinger, R.G., Mayr, J.A., Wortmann, S.B., Aichner, H., Rudnik-Schöneborn, S., Ruiz, A., Gabau, E., Sánchez, J.P., Ellard, S., Homfray, T., Stals, K.L., Wurst, W., Neubauer, B.A., Acker, T., Bohlander, S.K., Asensio, C., Besmond, C., Alkuraya, F.S., AlSayed, M.D., Hahn, A., Weber, A.

المصدر: Ann. Neurol. 90, 143-158 (2021)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33999436; info:eu-repo/semantics/altIdentifier/wos/WOS:000658060100001; info:eu-repo/semantics/altIdentifier/isbn/0364-5134; info:eu-repo/semantics/altIdent; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62104Test; urn:isbn:0364-5134; urn:issn:0364-5134; urn:issn:1531-8249

الإتاحة: https://doi.org/10.1002/ana.26127Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62104Test

المؤلفون: Husain, R.A., Grimmel, M., Wagner, M., Hennings, J.C., Marx, C., Feichtinger, R.G., Saadi, A., Rostásy, K., Radelfahr, F., Bevot, A., Döbler-Neumann, M., Hartmann, H., Colleaux, L., Cordts, I., Kobeleva, X., Darvish, H., Bakhtiari, S., Kruer, M.C., Besse, A., Ng, A.C.H., Chiang, D., Bolduc, F., Tafakhori, A., Mane, S., Ghasemi Firouzabadi, S., Huebner, A.K., Buchert, R., Beck-Woedl, S., Müller, A.J., Laugwitz, L., Nägele, T., Wang, Z.Q., Strom, T.M., Sturm, M., Meitinger, T., Klockgether, T., Riess, O., Klopstock, T., Brandl, U., Hübner, C.A., Deschauer, M., Mayr, J.A., Bonnen, P.E., Krägeloh-Mann, I., Wortmann, S.B., Haack, T.B.

المصدر: Am. J. Hum. Genet. 107, 364-373 (2020)

مصطلحات موضوعية: Developmental Delay, Encephalopathy, Exome Sequencing, Hereditary Spastic Paraplegia, Hpdl, Leigh-like Syndrome, Mitochondrial Metabolism, Movement Disorder

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32707086; info:eu-repo/semantics/altIdentifier/wos/WOS:000558491800016; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59885Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.06.015Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59885Test

المؤلفون: Gusic, M., Schottmann, G., Feichtinger, R.G., Du, C., Scholz, C., Wagner, M., Mayr, J.A., Lee, C.Y., Yépez, V.A., Lorenz, N., Morales-Gonzalez, S., Panneman, D.M., Rötig, A., Rodenburg, R.J.T., Wortmann, S.B., Prokisch, H., Schuelke, M.

المصدر: Am. J. Hum. Genet. 106, 102-111 (2020)

مصطلحات موضوعية: Alopecia, Cardiomyopathy, Microscale Respiratory, Mitochondrial Complex Iii Deficiency, Mitochondrial Import Sequence, Mitochondriopathy, Mutation, Q-cycle, Rieske Iron-sulfur Protein

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000505170800008; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics/altIdentifier/pissn/0002-9297; info:eu-repo/semanti; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57737Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.12.005Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57737Test