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1Academic Journal
المؤلفون: May, V., Koch, L., Fischer-Zirnsak, B., Horn, D., Gehle , P., Kornak, U., Beule, D., Holtgrewe, M.
المصدر: Bioinformatics
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/35751599; http://hdl.handle.net/21.11116/0000-000A-B3C2-0; http://hdl.handle.net/21.11116/0000-000D-C0C4-C
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2Academic Journal
المؤلفون: Boschann, F., Cogulu, M., Pehlivan, D., Balachandran, S., Vallecillo-Garcia, P., Grochowski, C., Hansmeier, N., Coban Akdemir, Z., Prada-Medina, C., Aykut, A., Fischer-Zirnsak, B., Badura, S., Durmaz, B., Ozkinay, F., Hägerling, R., Posey, J., Stricker, S., Gillessen-Kaesbach, G., Spielmann, M., Horn, D., Brockmann, K., Lupski, J., Kornak, U., Schmidt, J.
المصدر: GENETICS IN MEDICINE
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/35962790; http://hdl.handle.net/21.11116/0000-000A-ED18-1; http://hdl.handle.net/21.11116/0000-000A-ED1A-F; http://hdl.handle.net/21.11116/0000-000A-ED1B-E
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3Academic Journal
المؤلفون: Boschann, F., Moreno, D., Mensah, M., Sczakiel, H., Skipalova , K., Holtgrewe , M., Mundlos, S., Fischer-Zirnsak, B.
المصدر: Journal of Human Genetics
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/35095096; http://hdl.handle.net/21.11116/0000-000A-29AF-4; http://hdl.handle.net/21.11116/0000-000A-29B1-0; http://hdl.handle.net/21.11116/0000-000A-29B2-F
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4Academic Journal
المؤلفون: Heck, R., Fischer-Zirnsak, B., Photiadis, J., Horn, D., Gehle, P.
المصدر: Interactive CardioVascular and Thoracic Surgery
وصف الملف: application/pdf
Relation: http://hdl.handle.net/21.11116/0000-000A-BB11-0; http://hdl.handle.net/21.11116/0000-000A-BB13-E
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5Academic Journal
المؤلفون: de Los Santos, M., Rivalan, M., David, F., Stumpf, A., Pitsch, J., Tsortouktzidis, D., Moreno Velasquez, L., Voigt, A., Schilling, K., Mattei, D., Long, M., Vogt, G., Knaus, A., Fischer-Zirnsak, B., Wittler, L., Timmermann, B., Robinson , P., Horn, D., Mundlos, S., Kornak, U., Becker, A., Schmitz , D., Winter, Y., Krawitz, P.
المصدر: Proceedings of the National Academy of Sciences of the United States of America
وصف الملف: application/pdf
Relation: http://hdl.handle.net/21.11116/0000-0008-1756-E; http://hdl.handle.net/21.11116/0000-0008-1758-C
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6Academic Journal
المؤلفون: Rodríguez de los Santos, M., Rivalan, M., David, F.S., Stumpf, A., Pitsch, J., Tsortouktzidis, D., Velasquez, L.M., Voigt, A., Schilling, K., Mattei, D., Long, M., Vogt, G., Knaus, A., Fischer-Zirnsak, B., Wittler, L., Timmermann, B., Robinson, P.N., Horn, D., Mundlos, S., Kornak, U., Becker, A.J., Schmitz, D., Winter, Y., Krawitz, P.M.
مصطلحات موضوعية: Function and Dysfunction of the Nervous System
وصف الملف: application/pdf; other
Relation: http://edoc.mdc-berlin.de/19834/1/19834oa.pdf; http://edoc.mdc-berlin.de/19834/7/19834suppl.zip; A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Rodríguez de los Santos, M. and Rivalan, M. and David, F.S. and Stumpf, A. and Pitsch, J. and Tsortouktzidis, D. and Velasquez, L.M. and Voigt, A. and Schilling, K. and Mattei, D. and Long, M. and Vogt, G. and Knaus, A. and Fischer-Zirnsak, B. and Wittler, L. and Timmermann, B. and Robinson, P.N. and Horn, D. and Mundlos, S. and Kornak, U. and Becker, A.J. and Schmitz, D. and Winter, Y. and Krawitz, P.M. Proceedings of the National Academy of Sciences of the United States of America 118 (2): e2014481118. 12 January 2021
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7Academic Journal
المؤلفون: Holtgrewe, M., Stolpe, O., Nieminen, M., Mundlos, S., Knaus, A., Kornak, U., Seelow, D., Segebrecht, L., Spielmann, M., Fischer-Zirnsak, B., Boschann, F., Scholl, U., Ehmke, N., Beule, D.
مصطلحات موضوعية: Technology Platforms
وصف الملف: application/pdf
Relation: http://edoc.mdc-berlin.de/18892/1/18892oa.pdf; http://edoc.mdc-berlin.de/18892/7/18892suppl.pdf; VarFish: comprehensive DNA variant analysis for diagnostics and research. Holtgrewe, M. and Stolpe, O. and Nieminen, M. and Mundlos, S. and Knaus, A. and Kornak, U. and Seelow, D. and Segebrecht, L. and Spielmann, M. and Fischer-Zirnsak, B. and Boschann, F. and Scholl, U. and Ehmke, N. and Beule, D. Nucleic Acids Research 48 (W1): W162-W169. 2 July 2020
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8Academic Journal
المؤلفون: Hsieh, T-C, Mensah, MA, Pantel, JT, Aguilar, D, Bar, O, Bayat, A, Becerra-Solano, L, Bentzen, HB, Biskup, S, Borisov, O, Braaten, O, Ciaccio, C, Coutelier, M, Cremer, K, Danyel, M, Daschkey, S, Eden, HD, Devriendt, K, Wilson, S, Douzgou, S, Đukić, D, Ehmke, N, Fauth, C, Fischer-Zirnsak, B, Fleischer, N, Gabriel, H, Graul-Neumann, L, Gripp, KW, Gurovich, Y, Gusina, A, Haddad, N, Hajjir, N, Hanani, Y, Hertzberg, J, Hoertnagel, K, Howell, J, Ivanovski, I, Kaindl, A, Kamphans, T, Kamphausen, S, Karimov, C, Kathom, H, Keryan, A, Knaus, A, Köhler, S, Kornak, U, Lavrov, A, Leitheiser, M, Lyon, GJ, Mangold, E, Reina, PM, Carrascal, AM, Mitter, D, Herrador, LM, Nadav, G, Nöthen, M, Orrico, A, Ott, C-E, Park, K, Peterlin, B, Pölsler, L, Raas-Rothschild, A, Randolph, L, Revencu, N, Fagerberg, CR, Robinson, PN, Rosnev, S, Rudnik, S, Rudolf, G, Schatz, U, Schossig, A, Schubach, M, Shanoon, O, Sheridan, E, Smirin-Yosef, P, Spielmann, M, Suk, E-K, Sznajer, Y, Thiel, CT, Thiel, G, Verloes, A, Vrecar, I, Wahl, D, Weber, I, Winter, K, Wiśniewska, M, Wollnik, B, Yeung, MW, Zhao, M, Zhu, N, Zschocke, J, Mundlos, S, Horn, D, Krawitz, PM
وصف الملف: text
Relation: https://eprints.whiterose.ac.uk/157204/1/s41436-019-0566-2.pdf; Hsieh, T-C, Mensah, MA, Pantel, JT et al. (91 more authors) (2019) PEDIA: prioritization of exome data by image analysis. Genetics in Medicine, 21 (12). pp. 2807-2814. ISSN 1098-3600
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9Report
المؤلفون: Holtgrewe, M., Stolpe, O., Nieminen, M., Mundlos, S., Knaus, A., Kornak, U., Seelow, D., Segebrecht, L., Spielmann, M., Fischer-Zirnsak, B., Boschann, F., Scholl, U., Ehmke, N., Beule, D.
مصطلحات موضوعية: Technology Platforms
وصف الملف: application/pdf
Relation: http://edoc.mdc-berlin.de/18788/1/18788oa.pdf; VarFish - Collaborative and comprehensive variant analysis for diagnosis and research. Holtgrewe, M. and Stolpe, O. and Nieminen, M. and Mundlos, S. and Knaus, A. and Kornak, U. and Seelow, D. and Segebrecht, L. and Spielmann, M. and Fischer-Zirnsak, B. and Boschann, F. and Scholl, U. and Ehmke, N. and Beule, D. bioRxiv : 2020.01.27.921965. 31 January 2020
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10Academic Journal
المؤلفون: Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A., Adolphs, N., Saha, N., Fauler, B., Kalscheuer, V., Hennig, F., Altmüller, J., Netzer, C., Thiele, H., Nürnberg, P., Yigit, G., Jäger, M., Hecht, J., Krüger, U., Mielke, T., Krawitz, P., Horn, D., Schuelke, M., Mundlos, S., Bacino, C., Bonnen, P., Wollnik, B., Fischer-Zirnsak, B., Kornak, U.
المصدر: The American Journal of Human Genetics
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pissn/1537-6605 (Electronic)0002-9297 (Print); http://hdl.handle.net/21.11116/0000-0000-CE88-F; http://hdl.handle.net/21.11116/0000-0000-CE8A-D
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11Academic Journal
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
Relation: 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=50296; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
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12Academic Journal
المؤلفون: Kornak, U., Saha, N., Keren, B., Neumann, A., Taylor Tavares, A. L., Piard, J., Kopp, J., Rodrigues Alves, J. G., Rodríguez de los Santos, M., El Choubassi, N., Ehmke, N., Jäger, M., Spielmann, M., Pantel, J. T., Lejeune, E., Fauler, B., Mielke, T., Hecht, J., Meierhofer, D., Strom, T. M., Laugel, V., Gerard-Loiseau, Sandra, Mundlos, S., Bertoli-Avella, A., Bauer, P., Heyd, F., Boute, Odile, Dupont, J., Depienne, C., van Maldergem, L., Fischer-Zirnsak, B.
المساهمون: Centre d'histoire judiciaire (CHJ), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)
المصدر: ISSN: 1530-0366 ; Genet Med ; https://hal.univ-lille.fr/hal-04748064 ; Genet Med, 2022, Genet Med, 24, pp.1927-1940. ⟨10.1016/j.gim.2022.05.004⟩.
مصطلحات موضوعية: Alternative splicing, BUD13, Lipodystrophy, Progeroid disorder, RES complex, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/35670808; PUBMED: 35670808
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13Academic Journal
المؤلفون: Mackenroth, L., Fischer-Zirnsak, B., Egerer, J., Hecht, J., Kallinich, T., Stenzel, W., Spors, B., von Moers, A., Mundlos, S., Kornak, U., Gerhold, K., Horn, D.
المصدر: American Journal of Medical Genetics Part A
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pissn/1552-4833 (Electronic)1552-4825 (Print); http://hdl.handle.net/11858/00-001M-0000-002E-1C8C-C; http://hdl.handle.net/11858/00-001M-0000-002E-1C8F-6
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14Academic Journal
المؤلفون: Hartmann, B., Wai, T., Hu, H., MacVicar, T., Musante, L., Fischer-Zirnsak, B., Stenzel, W., Graf, R., van den Heuvel, L., Ropers, H., Wienker, T., Hübner, C., Langer, T., Kaindl, A.
المصدر: eLife
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pissn/2050-084X (Electronic); http://hdl.handle.net/21.11116/0000-0000-C6C3-4; http://hdl.handle.net/21.11116/0000-0000-C6C5-2
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15Conference
المؤلفون: Vogt, G, El Choubassi, N, Holtgrewe, M, Krause, S, Lekaj, A, Horvath, R, Schuelke, M, Gardeitchik, T, Mundlos, S, Herczegfalvi, A, Lochmueller, H, Karcagi, V, Kornak, U, Fischer-Zirnsak, B
وصف الملف: application/pdf
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16Academic Journal
المؤلفون: Ehmke, N., Caliebe, A., Koenig, R., Kant, S., Stark, Z., Cormier-Daire, V., Wieczorek, D., Gillessen-Kaesbach, G., Hoff, K., Kawalia, A., Thiele, H., Altmuller, J., Fischer-Zirnsak, B., Knaus, A., Zhu, N., Heinrich, V., Huber, C., Harabula, I., Spielmann, M., Horn, D., Kornak, U., Hecht, J., Krawitz, P., Nurnberg, P., Siebert, R., Manzke, H., Mundlos, S.
المصدر: The American Journal of Human Genetics
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pissn/1537-6605 (Electronic)0002-9297 (Print); http://hdl.handle.net/11858/00-001M-0000-0025-7848-D; http://hdl.handle.net/11858/00-001M-0000-0025-784A-9
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17
المؤلفون: Vogt, G, El Choubassi, N, Holtgrewe, M, Krause, S, Lekaj, A, Horvath, R, Schuelke, M, Gardeitchik, T, Mundlos, S, Herczegfalvi, A, Lochmueller, H, Karcagi, V, Kornak, U, Fischer-Zirnsak, B
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18Academic Journal
المؤلفون: Melo, U., Schöpflin, R., Acuna-Hidalgo, R., Mensah, M., Fischer-Zirnsak, B., Holtgrewe, M., Klever, M., Türkmen, S., Heinrich, V., Datkhaeva Pluym, I., Matoso, E., de Sousa, S., Louro, P., Hülsemann, W., Cohen, M., Dufke, A., Latos-Bieleńska, A., Vingron, M., Kalscheuer, V., Quintero-Rivera, F., Spielmann, M., Mundlos, S.
المصدر: The American Journal of Human Genetics
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19Conference
المؤلفون: Beyens, A, Albuisson, J, Lepard, T, Canham, N, Chopin, J, Dasouki, M, Devriendt, Koenraad, Dietz, H, Fischer-Zirnsak, B, Gezdirici, A, Giuliano, F, Guitart, M, Haider, M, Hardin, J, Michael, H, Jeunemaitre, X, Kornak, U, Landecho, M, Lyonnet, S, Mohammed, S, Nampoothiri, S, Pichler, K, Prescott, K, Ramos, M, Rossi, M, Salih, M, Said Ahmed, M, Schaefer, E, Steichen-Gersdorf, E, Van Malderghem, L, Warner, D, De Paepe, A, Muino Mosquera, L, De Backer, J, Willaert, A, Boel, P, Coucke, P, Taylor, A, Davis, E, Zarate, Y, Callewaert, B
Relation: Online abstracts; ESHG European Human Genetics Conference location:Copenhagen, Denmark date:27-30 May 2017; https://lirias.kuleuven.be/handle/123456789/586535; http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=5e1b44cc-44f1-4f07-a1c9-81908dceb10a&cKey=7ca09fe1-2465-4091-9d96-8da4e8195e25&mKey=%7b15A3630E-7769-4D64-A80A-47F190AC2F4F%7d
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20Conference
المؤلفون: De Paepe, A, Thiel, C, Haack, TB, Malfair, F, Morava, E, Callewaert, B, Mak, CCY, van Scherpenzeei, M, Wong, SY, Kamstccg, EJ, Hotschen, A, De Rycke, R, Steyaert, W, Syx, D, Lefeber, DJ, van Kraaij, S, Dalloyaux, D, Kariminejad, A, Guillemyn, B, Freisinger, P, Gucerrero-Castillo, S, Mohamed, M, Gardenchik, T, van Damme, T, Jamali, P, Brandt, U, Nijtmans, L, Korenke, C, Chung, BHY, Hausser, I, Kornak, U, Fischer-Zirnsak, B, Strom, TM, Meitinger, T, Alanay, Y, Utine, GE, Leung, PKC, Ghadcri-Soli, S, Coucke, P, Symoens, S
Relation: Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016; The 2016 Joint Meeting of the Asian Society for Pediatric Research and Faculty of Medicine Ramathibodi Hospital (ASPR 2016), Bangkok, Thailand, 9-11 November 2016.; 270660; http://hdl.handle.net/10722/236475
الاتاحة: http://hdl.handle.net/10722/236475
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