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: 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/11454/79548Test; 2-s2.0-85140967450

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

المؤلفون: Smirnov, D., Schlieben, L.D., Peymani, F., Berutti, R., Prokisch, H.

المصدر: Hum. Mutat. 43, 1056-1070 (2022)

مصطلحات موضوعية: Rna Sequencing, Guidelines, Rare Disorders, Variant Interpretation

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35645004; info:eu-repo/semantics/altIdentifier/wos/WOS:000818107000001; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65473Test; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004

الإتاحة: https://doi.org/10.1002/humu.24416Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65473Test

المؤلفون: Sanin, V., Schmieder, R., Ates, S., Schlieben, L.D., Wiehler, J., Sun, R., Decker, M., Sander, M., Holdenrieder, S., Kohlmayer, F., Friedmann, A., Mall, V., Feiler, T., Dressler, A., Strom, T.M., Prokisch, H., Meitinger, T., von Scheidt, M., Koenig, W., Leipold, G., Schunkert, H.

المصدر: Med. Genet. 34, 41-51 (2022)

مصطلحات موضوعية: Digimed Bayern, Vroni, Familial Hypercholesterolemia, Hyperlipidemia, Atherosclerosis, Screening

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000791502400006; info:eu-repo/semantics/altIdentifier/isbn/0936-5931; info:eu-repo/semantics/altIdentifier/pissn/0936-5931; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65043Test; urn:isbn:0936-5931; urn:issn:0936-5931; urn:issn:1863-5490

الإتاحة: https://doi.org/10.1515/medgen-2022-2115Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65043Test

المؤلفون: Sanin, V., Schmieder, R., Ates, S., Schlieben, L.D., Wiehler, J., Sun, R., Decker, M., Sander, M., Holdenrieder, S., Kohlmayer, F., Friedmann, A., Mall, V., Feiler, T., Dreßler, A., Strom, T.M., Prokisch, H., Meitinger, T., von Scheidt, M., Koenig, W., Leipold, G., Schunkert, H.

المصدر: Eur. J. Public Health 32, 422-428 (2022)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35165720; info:eu-repo/semantics/altIdentifier/wos/WOS:000764521800001; info:eu-repo/semantics/altIdentifier/isbn/1101-1262; info:eu-repo/semantics/alt; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64365Test; urn:isbn:1101-1262; urn:issn:1101-1262; urn:issn:1464-360X

الإتاحة: https://doi.org/10.1093/eurpub/ckac007Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64365Test

المؤلفون: Schlieben, L.D., Prokisch, H., Yépez, V.A.

المصدر: Front. Mol. Biosci. 8:647277 (2021)

مصطلحات موضوعية: Aberrant Expression, Aberrant Splicing, Machine Learning, Mono-allelic Expression, Rare Disorders, Rna Sequencing, Statistical Models

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34141720; info:eu-repo/semantics/altIdentifier/wos/WOS:000661446000001; info:eu-repo/semantics/altIdentifier/isbn/2296-889X; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62302Test; urn:isbn:2296-889X; urn:issn:2296-889X

الإتاحة: https://doi.org/10.3389/fmolb.2021.647277Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62302Test

المؤلفون: Schlieben, L.D., Prokisch, H.

المصدر: Front. Cell Dev. Biol. 8:600079 (2020)

مصطلحات موضوعية: Challenges, Diagnostic, Genetics, Mitochondrial Disease, Mutation

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33324649; info:eu-repo/semantics/altIdentifier/wos/WOS:000596847100001; info:eu-repo/semantics/altIdentifier/isbn/2296-634X; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60806Test; urn:isbn:2296-634X; urn:issn:2296-634X

الإتاحة: https://doi.org/10.3389/fcell.2020.600079Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60806Test

المؤلفون: Vogel, G.F., Mozer-Glassberg, Y., Landau, Y.E., Schlieben, L.D., Prokisch, H., Feichtinger, R.G., Mayr, J.A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F.S., Baker, J.J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A.M., Darin, N., Marina, A. Della, Distelmaier, F., Eklund, E.A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R.D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M.G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, Heidi, Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R.W., Thorburn, D.R., Teles, E.L., Wang, J.S., Weghuber, D., Wortmann, S.B.

المصدر: Genetics in Medicine, 25, 6

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 6: Metabolic Disorders Paediatrics

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/293495/293495.pdfTest; https://repository.ubn.ru.nl/handle/2066/293495Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.015Test
https://repository.ubn.ru.nl//bitstream/handle/2066/293495/293495.pdfTest
https://repository.ubn.ru.nl/handle/2066/293495Test

المؤلفون: Lenz, D., Schlieben, L.D., Shimura, M., Bianzano, A., Garbade, S., Smirnov, D., Kopajtich, R., Adam, R., Aldrian, D., Barić, Ivo, Baumann, Ulrich, Bozbulut, N.E., Bufler, Philip, Burnyte, B., Calvo, Pier Luigi, Crushell, E., Dalgic, Buket, Das, A., Dezsofi, Antal, Dick, A., Houwen, RHJ

المساهمون: MDL patientenzorg

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/448252Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/448252Test