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1Academic Journal
المؤلفون: Holmes, TD, Pandey, RV, Helm, EY, Schlums, H, Han, HY, Campbell, TM, Drashansky, TT, Chiang, S, Wu, CY, Tao, C, Shoukier, M, Tolosa, E, Von Hardenberg, S, Sun, M, Klemann, C, Marsh, RA, Lau, CM, Lin, Y, Sun, JC, Mansson, R, Cichocki, F, Avram, D, Bryceson, YT
المصدر: Science immunology. 6(57)
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Academic Journal
المؤلفون: Bertino F., Mukherjee D., Bonora M., Bagowski C., Nardelli J., Metani L., Zanin Venturini D. I., Chianese D., Santander N., Salaroglio I. C., Hentschel A., Quarta E., Genova T., McKinney A. A., Allocco A. L., Fiorito V., Petrillo S., Ammirata G., De Giorgio F., Dennis E., Allington G., Maier F., Shoukier M., Gloning K. -P., Munaron L., Mussano F., Salsano E., Pareyson D., di Rocco M., Altruda F., Panagiotakos G., Kahle K. T., Gressens P., Riganti C., Pinton P. P., Roos A., Arnold T., Tolosano E., Chiabrando D.
المساهمون: Bertino, F, Mukherjee, D, Bonora, M, Bagowski, C, Nardelli, J, Metani, L, Zanin Venturini, D, Chianese, D, Santander, N, Salaroglio, I, Hentschel, A, Quarta, E, Genova, T, Mckinney, A, Allocco, A, Fiorito, V, Petrillo, S, Ammirata, G, De Giorgio, F, Dennis, E, Allington, G, Maier, F, Shoukier, M, Gloning, K, Munaron, L, Mussano, F, Salsano, E, Pareyson, D, di Rocco, M, Altruda, F, Panagiotakos, G, Kahle, K, Gressens, P, Riganti, C, Pinton, P, Roos, A, Arnold, T, Tolosano, E, Chiabrando, D
مصطلحات موضوعية: Animal, Calcium, Human, Hydrocephalu, Inositol 1,4,5-Trisphosphate Receptor, Membrane Transport Protein, Mice, Mitochondria, Neural Stem Cell, Neurogenesi, Receptors, Virus
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/39019006; info:eu-repo/semantics/altIdentifier/wos/WOS:001277002900001; volume:5; issue:7; journal:CELL REPORTS MEDICINE; https://hdl.handle.net/10281/527822
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3Academic Journal
المؤلفون: Aughey G, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Ali Z, Abdulllah U, Cheema HA, Anjum MN, Morel G, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Murtaza BN, Rehman MU, SYNAPS Study Group, Consortium GE, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Gleeson J, Baig SM, Efthymiou S, Taylor JC, Severino M, Jepson JE, Houlden H.
المساهمون: Aughey, G, Cali, E, Maroofian, R, Zaki, M, Pagnamenta, At, Rahman, F, Menzies, L, Shafique, A, Suri, M, Roze, E, Aguennouz, M, Ghizlane, Z, Saadi, Sm, Ali, Z, Abdulllah, U, Cheema, Ha, Anjum, Mn, Morel, G, Mcfarland, R, Altunoglu, U, Kraus, V, Shoukier, M, Murphy, D, Flemming, K, Yttervik, H, Rhouda, H, Lesca, G, Murtaza, Bn, Rehman, Mu, SYNAPS Study, Group, Consortium, Ge, Seo, Gh, Beetz, C, Kayserili, H, Krioulie, Y, Chung, Wk, Naz, S, Maqbool, S, Gleeson, J, Baig, Sm, Efthymiou, S, Taylor, Jc, Severino, M, Jepson, Je, Houlden, H.
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/38746364; firstpage:1; lastpage:47; numberofpages:47; journal:medRxiv; https://hdl.handle.net/11570/3300289; medrxiv.org
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4Academic Journal
المؤلفون: Schiessl, B., Janke, A., Liebrecht, D., Daumer‐Haas, C., Shoukier, M.
المصدر: Ultrasound in Obstetrics & Gynecology ; volume 64, issue S1, page 294-294 ; ISSN 0960-7692 1469-0705
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5Academic Journal
المؤلفون: Koning, M.A. de, Ramirez, P.A.P., Haak, M.C., Han, X., Ruiterkamp-Versteeg, M.H., Leeuw, N. de, Schatz, U.A., Shoukier, M., Rieger-Fackeldey, E., Ortiz, J.U., Duinen, S.G. van, Klein, W.M., Witlox, R.S.G.M., Finnell, R.H., Santen, G.W.E., Lei, Y.P., Suerink, M.
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Whole Exome Sequencing, Genetic Diseases, Inborn, Genetics, Medical, Human Genetics, Genetic Testing
وصف الملف: application/pdf
Relation: lumc-id: 186365288; https://hdl.handle.net/1887/3721007
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6Academic Journal
المؤلفون: Bulfamante G. P., Carpenito L., Bragantini E., Graziani S., Bellizzi M., Bagowski C. P., Shoukier M., Rivieri F., Soffiati M., Barbareschi M.
المساهمون: G.P. Bulfamante, L. Carpenito, E. Bragantini, S. Graziani, M. Bellizzi, C.P. Bagowski, M. Shoukier, F. Rivieri, M. Soffiati, M. Barbareschi
مصطلحات موضوعية: arterial calcification, autopsy, ENPP1 gene, GACI, mutation, pathogenic variant, Settore MED/08 - Anatomia Patologica, Settore MED/35 - Malattie Cutanee e Veneree
Relation: info:eu-repo/semantics/altIdentifier/pmid/34199854; info:eu-repo/semantics/altIdentifier/wos/WOS:000665476100001; volume:11; issue:6; firstpage:1; lastpage:9; numberofpages:9; journal:DIAGNOSTICS; http://hdl.handle.net/2434/899733; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108190353
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7Academic Journal
المؤلفون: Lessel, D., Gehbauer, C., Bramswig, N.C., Schluth-Bolard, C., Venkataramanappa, S., van Gassen, K.L.I., Hempel, M., Haack, T.B., Baresic, A., Genetti, C.A., Funari, M.F.A., Lessel, I., Kuhlmann, L., Simon, R., Liu, P., Denecke, J., Kuechler, A., de Kruijff, I., Shoukier, M., Lek, M., Mullen, T., Luedecke, H., Lerario, A.M., Kobbe, R., Krieger, T., Demeer, B., Lebrun, M., Keren, B., Nava, C., Buratti, J., Afenjar, A., Shinawi, M., Sacoto, M.J.G., Gauthier, J., Hamdan, F.F., Laberge, A., Campeau, P.M., Louie, R.J., Cathey, S.S., Prinz, I., Jorge, A.A.L., Terhal, P.A., Lenhard, B., Wieczorek, D., Strom, T.M., Agrawal, P.B., Britsch, S., Tolosa, E., Kubisch, C.
المصدر: Brain 141, 2299-2311 (2018)
مصطلحات موضوعية: Bcl11b, Developmental Delay, Intellectual Disability, Neurodevelopment, Type 2 Innate Lymphoid Cells
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/29985992; info:eu-repo/semantics/altIdentifier/wos/WOS:000440991100019; info:eu-repo/semantics/altIdentifier/isbn/0006-8950; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=54173; urn:isbn:0006-8950; urn:issn:0006-8950; urn:issn:1460-2156
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8Academic Journal
المؤلفون: Shoukier, M., Klein, Nadja, Auber, B., Wickert, J., Schroeder, J., Zoll, Barbara, Burfeind, P., Bartels, I., Alsat, E. A., Lingen, M., Grzmil, P., Schulze, S., Keyser, J., Weise, Dagmar, Borchers, M., Hobbiebrunken, E., Roebl, M., Gärtner, Jutta, Brockmann, Knut, Zirn, Birgit
المساهمون: Shoukier, M., Klein, Nadja, Auber, B., Wickert, J., Schroeder, J., Zoll, Barbara, Burfeind, P., Bartels, I., Alsat, E. A., Lingen, M., Grzmil, P., Schulze, S., Keyser, J., Weise, Dagmar, Borchers, M., Hobbiebrunken, E., Roebl, M., Gärtner, Jutta, Brockmann, Knut, Zirn, Birgit
Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/8063; 000312544000011; 3142418
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9Academic Journal
المؤلفون: Schneegans, S. M., Rosenberger, A., Engel, U., Sander, M., Emons, G., Shoukier, M.
المصدر: Familial Cancer ; volume 11, issue 2, page 181-188 ; ISSN 1389-9600 1573-7292
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10Academic Journal
المؤلفون: Moog, U., Kutsche, K., Kortum, F., Chilian, B., Bierhals, T., Apeshiotis, N., Balg, S., Chassaing, N., Coubes, C., Das, S., Engels, H., Van Esch, H., Grasshoff, U., Heise, M., Isidor, B., Jarvis, J., Koehler, U., Martin, T., Oehl-Jaschkowitz, B., Ortibus, E., Pilz, D. T., Prabhakar, P., Rappold, G., Rau, I., Rettenberger, G., Schluter, G., Scott, R. H., Shoukier, M., Wohlleber, E., Zirn, B., Dobyns, W. B., Uyanik, G.
المصدر: Journal of Medical Genetics ; volume 48, issue 11, page 741-751 ; ISSN 0022-2593 1468-6244
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11Academic Journal
المؤلفون: Scala, M., Accogli, A., De Grandis, E., Allegri, A., Bagowski, C., Shoukier, M., Maghnie, M., Capra, V.
المساهمون: Scala, M., Accogli, A., De Grandis, E., Allegri, A., Bagowski, C., Shoukier, M., Maghnie, M., Capra, V.
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000489313107227; firstpage:1; lastpage:5; numberofpages:5; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11567/1119291
الاتاحة: https://hdl.handle.net/11567/1119291
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12Conference
المؤلفون: Mommsen, H, Gloning, KP, Shoukier, M, Janke, A, Schramm, T
المصدر: 41. Dreiländertreffen ÖGUM, DEGUM, SGUM ; Ultraschall in der Medizin - European Journal of Ultrasound ; ISSN 1438-8782
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13Academic Journal
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14Academic Journal
المؤلفون: Lindner, M, Daumer-Haas, C, Bagowski, C, Shoukier, M, Minderer, S, Gloning, KP, Janke, A, Schramm, T
المصدر: Geburtshilfe und Frauenheilkunde ; volume 75, issue 06 ; ISSN 0016-5751 1438-8804
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15Academic Journal
المؤلفون: Gloning, V, Shoukier, M, Daumer-Haas, C, Bagowski, C, Minderer, S, Schramm, T, Gloning, KP
المصدر: Geburtshilfe und Frauenheilkunde ; volume 75, issue 06 ; ISSN 0016-5751 1438-8804
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16Academic Journal
المؤلفون: Schmidt, T., Bierhals, T., Kortüm, F., Bartels, I., Liehr, T., Burfeind, P., Shoukier, M., Frank, V., Bergmann, C., Kutsche, K.
المصدر: Cytogenetic and Genome Research ; volume 142, issue 1, page 1-6 ; ISSN 1424-8581 1424-859X
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17Academic Journal
المؤلفون: Böckle, B.C., Shoukier, M., Kaulfuß, S., Sepp, N.T.
المصدر: Journal of the European Academy of Dermatology and Venereology ; volume 27, issue 3, page 393-394 ; ISSN 0926-9959 1468-3083
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18Academic Journal
المؤلفون: Zirn, B, Arning, L, Bartels, I, Shoukier, M, Hoffjan, S, Neubauer, B, Hahn, A
المصدر: Neuropediatrics ; volume 43, issue 02 ; ISSN 0174-304X 1439-1899
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19Academic Journal
المؤلفون: Brockmann, K, Biskup, S, Shoukier, M
المصدر: Neuropediatrics ; volume 43, issue 02 ; ISSN 0174-304X 1439-1899
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20Academic Journal
المؤلفون: Zirn, B, Klein, N, Zoll, B, Burfeind, P, Bartels, I, Grzmil, P, Gärtner, J, Brockmann, K, Shoukier, M
المصدر: Neuropediatrics ; volume 43, issue 02 ; ISSN 0174-304X 1439-1899
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