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1دورية أكاديمية
المؤلفون: Hake, L., Süßmuth, K., Komlosi, K., Kopp, J., Drerup, C., Metze, D., Traupe, H., Hausser, I., Eckl, K.M., Hennies, H.C., Fischer, J., Oji, V.
المساهمون: Bundesministerium für Bildung, Wissenschaft, Forschung und Technologie, Deutsche Forschungsgemeinschaft
المصدر: Journal of the European Academy of Dermatology and Venereology ; volume 36, issue 4, page 582-591 ; ISSN 0926-9959 1468-3083
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2دورية أكاديمية
المؤلفون: Komlosi, K., Claris, O., Collardeau-Frachon, S., Kopp, J., Hausser, I., Mazereeuw-Hautier, J., Jonca, N., Zimmer, A. D., Sanlaville, D., Fischer, J.
المساهمون: University of Freiburg Freiburg, Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Heidelberg University Hospital Heidelberg, Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Fédératif de Biologie (IFB), Institut NeuroMyoGène (INMG), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: ISSN: 1664-8021 ; Frontiers in Genetics ; https://inserm.hal.science/inserm-03582080Test ; Frontiers in Genetics, 2021, 12, pp.719624. ⟨10.3389/fgene.2021.719624⟩.
مصطلحات موضوعية: congenital disorders of glycosylation, Dolk, interest, Mendelian disorders of cornification, or financial relationships that could be construed as a potential conflict of, syndromic ichthyosis, whole exome sequencing, [SDV]Life Sciences [q-bio]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34956305; inserm-03582080; https://inserm.hal.science/inserm-03582080Test; https://inserm.hal.science/inserm-03582080/documentTest; https://inserm.hal.science/inserm-03582080/file/fgene-12-719624.pdfTest; PUBMED: 34956305; PUBMEDCENTRAL: PMC8693085
الإتاحة: https://doi.org/10.3389/fgene.2021.719624Test
https://inserm.hal.science/inserm-03582080Test
https://inserm.hal.science/inserm-03582080/documentTest
https://inserm.hal.science/inserm-03582080/file/fgene-12-719624.pdfTest -
3دورية أكاديمية
المؤلفون: Smith, BRC, Nystroem, A, Nowell, CJ, Hausser, I, Gretzmeier, C, Robertson, SJ, Varigos, GA, Has, C, Kern, JS, Pang, KC
العلاقة: pii: 261743; Smith, B. R. C., Nystroem, A., Nowell, C. J., Hausser, I., Gretzmeier, C., Robertson, S. J., Varigos, G. A., Has, C., Kern, J. S. & Pang, K. C. (2021). Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease. DISEASE MODELS & MECHANISMS, 14 (6), https://doi.org/10.1242/dmm.048082Test.; http://hdl.handle.net/11343/307963Test
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4دورية أكاديمية
المؤلفون: Qi, H., Schmöhl, F., Li, X., Qian, X., Tabler, C.T., Bennewitz, K., Sticht, C., Morgenstern, J., Fleming, T., Volk, N., Hausser, I., Heidenreich, E., Hell, R., Nawroth, P.P., Kroll, J.
المصدر: Adv. Sci., DOI:10.1002/advs.202101281:e2101281 (2021)
مصطلحات موضوعية: Acrolein (acr), Diabetes, Impaired Glucose Homeostasis, Organ Complications, Zebrafish
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34278746; info:eu-repo/semantics/altIdentifier/wos/WOS:000674191000001; info:eu-repo/semantics/altIdentifier/isbn/2198-3844; info:eu-repo/semantics/alt; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62557Test; urn:isbn:2198-3844; urn:issn:2198-3844
الإتاحة: https://doi.org/10.1002/advs.202101281Test
https://doi.org/10.1002/advs.202101281:e2101281Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62557Test -
5دورية أكاديمية
المؤلفون: Li, X., Schmöhl, F., Qi, H., Bennewitz, K., Tabler, C.T., Poschet, G., Hell, R., Volk, N., Poth, T., Hausser, I., Morgenstern, J., Fleming, T., Nawroth, P.P., Kroll, J.
المصدر: iScience 23:101763 (2020)
مصطلحات موضوعية: Human Metabolism, Molecular Genetics
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33251496; info:eu-repo/semantics/altIdentifier/isbn/2589-0042; info:eu-repo/semantics/altIdentifier/pissn/2589-0042; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60632Test; urn:isbn:2589-0042; urn:issn:2589-0042
الإتاحة: https://doi.org/10.1016/j.isci.2020.101763Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60632Test -
6دورية أكاديميةIdentification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis
المؤلفون: Hotz, A, Fagerberg, C, Vahlquist, A, Bygum, A, Törmä, H, Rauschendorf, M-A, Zhang, H, Heinz, L, Bourrat, E, Hausser, I, Vestergaard, V, Dragomir, A, Zimmer, A D, Fischer, J
المصدر: Hotz , A , Fagerberg , C , Vahlquist , A , Bygum , A , Törmä , H , Rauschendorf , M-A , Zhang , H , Heinz , L , Bourrat , E , Hausser , I , Vestergaard , V , Dragomir , A , Zimmer , A D & Fischer , J 2018 , ' Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis ' , British Journal of Dermatology , vol. 178 , no. 3 , pp. e207-e209 . https://doi.org/10.1111/bjd.15994Test
مصطلحات موضوعية: Adult, Aged, Female, Foot Dermatoses/genetics, Genes, Recessive, Hand Dermatoses/genetics, Heterozygote, Homozygote, Humans, Ichthyosis, Lamellar/genetics, Male, Mutation/genetics, Oxidoreductases/genetics
وصف الملف: application/pdf
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/19081419-c985-46d1-bb56-9ec906e0c95cTest
الإتاحة: https://doi.org/10.1111/bjd.15994Test
https://portal.findresearcher.sdu.dk/da/publications/19081419-c985-46d1-bb56-9ec906e0c95cTest
https://findresearcher.sdu.dk/ws/files/128559145/Identification_of_Mutations_in_SDR9C7_in_6_Families_with_Autosomal_Recessive_Congenital_Ichthyosis.pdfTest -
7دورية أكاديمية
المؤلفون: Chan, W., Steiner, M., Witkos, T., Egerer, J., Busse, B., Mizumoto, S., Pestka, J., Zhang, H., Hausser, I., Khayal, L., Ott, C., Kolanczyk, M., Willie, B., Schinke, T., Paganini, C., Rossi, A., Sugahara, K., Amling, M., Knaus, P., Chan, D., Lowe, M., Mundlos, S., Kornak, U.
المصدر: PLoS Genetics
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-0003-5CA5-CTest; http://hdl.handle.net/21.11116/0000-0003-5CA7-ATest
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8دورية أكاديمية
المؤلفون: Van Damme, T., Gardeitchik, T., Mohamed, M., Guerrero-Castillo, S., Freisinger, P., Guillemyn, B., Kariminejad, A., Dalloyaux, D., van Kraaij, S., Lefeber, D.J., Syx, D., Steyaert, W., De Rycke, R., Hoischen, A., Kamsteeg, E.J., Wong, S.Y., van Scherpenzeel, M., Jamali, P., Brandt, U., Nijtmans, L., Korenke, G.C., Chung, B.H.Y., Mak, C.C.Y., Hausser, I., Kornak, U., Fischer-Zirnsak, B., Strom, T.M., Meitinger, T., Alanay, Y., Utine, G.E., Leung, P.K.C., Ghaderi-Sohi, S., Coucke, P., Symoens, S., De Paepe, A., Thiel, C., Haack, T.B., Malfait, F., Morava, E., Callewaert, B., Wevers, R.A.
المصدر: Am. J. Hum. Genet. 100, 216-227 (2017)
مصطلحات موضوعية: Arcl2, Atp6v1a, Atp6v1e1, Autosomal Recessive, Cdg, Cellular Trafficking, Congenital Disorder Of Glycosylation, Cutis Laxa, Golgi Apparatus, V-atpase
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28065471; info:eu-repo/semantics/altIdentifier/wos/WOS:000393352000004; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50296Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
الإتاحة: https://doi.org/10.1016/j.ajhg.2016.12.010Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50296Test -
9مؤتمر
المؤلفون: Zemva, J, Bulkescher, R, Poth, T, Hausser, I, Rodemer, C, Erhardt, A, Okun, J, Herzig, S, Szendrödi, J, Nawroth, P
المصدر: Late Breaking Abstracts Diabetes Kongress 2021 – 55. Jahrestagung der DDG Präzisionsmedizin – Eine Reise in die Zukunft der Diabetologie www.diabeteskongress.de ; Diabetologie und Stoffwechsel ; ISSN 1861-9010
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10دورية أكاديمية
المؤلفون: Debette, S, Goeggel Simonetti, B, Schilling, S, Martin, Jj, Kloss, M, Sarikaya, H, Hausser, I, Engelter, S, Metso, Tm, Thijs, V, Touzé, E, Paolucci, S, Costa, P, Sessa, M, Samson, Y, Béjot, Y, Altintas, A, Metso, Aj, Hervé, D, Lichy, C, Jung, S, Fischer, U, Lamy, C, Grau, A, Chabriat, H, Caso, V, Lyrer, Pa, Stapf, C, Tatlisumak, T, Brandt, T, Tournier Lasserve, E, Germain, Dp, Frank, M, Baumgartner, Rw, Grond Ginsbach, C, Bousser, Mg, Leys, D, Dallongeville, J, Bersano, A, Arnold, M., PEZZINI, Alessandro
المساهمون: Debette, S, Goeggel Simonetti, B, Schilling, S, Martin, Jj, Kloss, M, Sarikaya, H, Hausser, I, Engelter, S, Metso, Tm, Pezzini, Alessandro, Thijs, V, Touzé, E, Paolucci, S, Costa, P, Sessa, M, Samson, Y, Béjot, Y, Altintas, A, Metso, Aj, Hervé, D, Lichy, C, Jung, S, Fischer, U, Lamy, C, Grau, A, Chabriat, H, Caso, V, Lyrer, Pa, Stapf, C, Tatlisumak, T, Brandt, T, Tournier Lasserve, E, Germain, Dp, Frank, M, Baumgartner, Rw, Grond Ginsbach, C, Bousser, Mg, Leys, D, Dallongeville, J, Bersano, A, Arnold, M.
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000345535700011; volume:83; issue:22; firstpage:2023; lastpage:2031; numberofpages:9; journal:NEUROLOGY; http://hdl.handle.net/11379/389710Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84961288150
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