يعرض 1 - 10 نتائج من 234 نتيجة بحث عن '"Puk, O"', وقت الاستعلام: 1.65s تنقيح النتائج
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    دورية أكاديمية
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    دورية أكاديمية

    وصف الملف: application/pdf; other

    العلاقة: http://edoc.mdc-berlin.de/24024/1/24024oa.pdfTest; http://edoc.mdc-berlin.de/24024/2/24024suppl.docxTest; Macrocephaly and digital anomalies expand the phenotypic spectrum of PGAP2 variants in hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3). Susgun, S. and Ben-Mahmoud, A. and Rüschendorf, F. and Ku, B. and Hussain, S.I. and Schulz, S. and Puk, O. and Biskup, S. and Labonne, J.D.J. and Don, D.W. and Gupta, V. and Choi, T.I. and Khan, S. and Wasif, N. and Lacassie, Y. and Layman, L.C. and Ugur Iseri, S.A. and Kim, C.H. and Kim, H.G. Human Mutation 2024 : 1-13. 5 January 2024

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    دورية أكاديمية

    المؤلفون: Janier, M, Almadjub, M, Beuf, O, Billotey, C, Bolbos, R, Canaple, L, Chereul, E, Grenier, D, Hiba, B, Odet, C, Langlois, JB, Lartizien, C, Magnier, L, Ma, WL, Zouagui, T, Lathrop, M, Gut, I, Puech, A, Herault, Y, Blanquet, V, Brault, V, Samarut, J, Aubert, D, Plateroti, M, Rosenthal, N, Al Banchaabouchi, M, Carter, J, Ermakova, O, Gale, K, Gonzalez, J, Perlas, E, Rientjes, J, Spanner, A, Trillat, AC, Tocchini-Valentini, G, Mandillo, S, Golini, E, Marazziti, D, Deidda, G, Rossi, N, Matteoni, R, Raspa, M, Scavizzi, F, Barbacid, M, Campuzano, MV, Dubus, P, Gallego, LP, Gonzalez, CG, Balling, R, Frischmann, U, Hauser, H, Lengeling, A, Muller, W, Pasche, B, de Angelis, MH, Wurst, W, Abe, K, Beckers, J, Busch, DH, Dalke, C, Durner, VG, Elvert, R, Franz, TJ, Fuchs, H, Graw, J, Holter, SM, Jakob, T, Kalaydjiev, S, Kallnik, M, Klempt, M, Klingenspor, M, Klopstock, T, Lengger, C, Martinez, LQ, Pedersen, V, Puk, O, Schneider, I, Weisenhorn, DV, Wagner, S, Wolf, E, Chambon, P, Auwerx, J, Ali-Hadji, D, Champy, MF, Frossard, N, Helwig, JJ, Mark, M, Monassier, L, Antal, MC, Barthelmebs, M, Bloch-Zupan, A, Constantinesco, A, Doll, P, El Fertak, L, Gofflot, F, Juillard, L, Krezel, W, Meziane, H, Ouagazzal, AM, Pons, F, Romand, R, Selloum, M, Sorg, T, Teletin, M, Vasseur, L, Wendling, O, Avner, P, Chantalat, S, Lendahl, U, Wilbertz, J, Davies, K, Oliver, P, Brown, S, Cheeseman, M, Coghill, E, Cox, R, Bentley, L, Ferguson, S, Gates, H, Gkoutos, G, Green, E, Hancock, J, Hough, T, Johnson, R, Lad, H, Mallon, AM, Nolan, P, Parker, A, Quarterman, J, Smith, A, Studley, M, Shukla, A, Tateossian, H, Tucci, V, Weekes, J, Jackson, I, Cross, S, Davidson, D, Hart, A, Murray, A, Berns, A, Breuer, M, van Garderen, E, Jonkers, J, Song, JY, van der Valk, M, Neyses, L, Cartwright, E, Oceandy, D, Emerson, M, Wahli, W, Delgado, MB, Desvergne, B, Michalik, L, Bedu, E, Duboule, D, Kmita, M, Zakany, J, Spitz, F, Bradley, A, Warren, M

    المصدر: Nature genetics. 54(3):358-360

    مصطلحات موضوعية: Medicin och hälsovetenskap

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    دورية أكاديمية

    المصدر: Invest. Ophthalmol. Vis. Sci. 61:44 (2020)

    مصطلحات موضوعية: Bmpr1b, Mouse Model, Retinal Gliosis, Optic Nerve Coloboma

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32106289; info:eu-repo/semantics/altIdentifier/wos/WOS:000517748100044; info:eu-repo/semantics/altIdentifier/isbn/0146-0404; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=58483Test; urn:isbn:0146-0404; urn:issn:0146-0404; urn:issn:1552-5783

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    دورية أكاديمية
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    دورية أكاديمية
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    دورية أكاديمية
  8. 8
    دورية أكاديمية

    المصدر: Nat. Genet. 54, 358-360 (2022)

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35169327; info:eu-repo/semantics/altIdentifier/wos/WOS:000755395300001; info:eu-repo/semantics/altIdentifier/isbn/1061-4036; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64476Test; urn:isbn:1061-4036; urn:issn:1061-4036; urn:issn:1546-1718

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    دورية أكاديمية