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1Academic Journal
المؤلفون: Cogne, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjold, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Sapp, JC, Zyskind, J, Holla, OL, Bedoukian, E, Filippini, F, Guimier, A, Picard, A, Busk, OL, Punetha, J, Pfundt, R, Lindstrand, A, Nordgren, A, Kalb, F, Desai, M, Ebanks, AH, Jhangiani, SN, Dewan, T, Akdemir, ZHC, Telegrafi, A, Zackai, EH, Begtrup, A, Song, XF, Toutain, A, Wentzensen, IM, Odent, S, Bonneau, D, Latypova, X, Deb, W, Redon, S, Bilan, F, Legendre, M, Troyer, C, Whitlock, K, Caluseriu, O, Murphree, MI, Pichurin, PN, Agre, K, Gavrilova, R, Rinne, T, Park, M, Shain, C, Heinzen, EL, Xiao, R, Amiel, J, Lyonnet, S, Isidor, B, Biesecker, LG, Lowenstein, D, Posey, JE, Denomme-Pichon, AS, Ferec, C, Yang, XJ, Rosenfeld, JA, Gilbert-Dussardier, B, Audebert-Bellanger, S, Redon, R, Stessman, HAF, Nellaker, C, Yang, YP, Lupski, JR, Goldstein, DB, Eichler, EE, Bolduc, F, Bezieau, S, Kury, S, Campeau, PM
المصدر: American journal of human genetics. 104(3):530-541
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Conference
المؤلفون: Schulz, A, von der Lippe, C
المصدر: 5. Alterstraumatologiekongress 2022; 20220601-20220602; München; DOC34 /20220624/
مصطلحات موضوعية: interdisziplinäre Behandlung, Regionalspital, ddc: 610
Relation: http://dx.doi.org/10.3205/22altra34; http://nbn-resolving.de/urn:nbn:de:0183-22altra345; http://www.egms.de/en/meetings/altra2022/22altra34.shtml
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3Report
المؤلفون: von der Lippe, C., Tveten, K., Prescott, T. E., Holla Ø, L., Busk Ø, L., Burke, K. B., Sansbury, F. H., Baptista, J., Fry, A. E., Lim, D., Jolles, S., Evans, J., Osio, D., Macmillan, C., Bruno, I., Faltera, F., Climent, S., Urreitzi, R., Hoenicka, J., Palau, F., Cohen, A. S. A., Engleman, K., Zhou, D., Amudhavalli, S. M., Jeanne, M., Bonnet-Brilhault, F., Lévy, J., Drunat, S., Derive, N., Haug, M. G., Thorstensen, W. M.
مصطلحات موضوعية: Zbtb7a, developmental delay, intellectual disability, macrocephaly, pharyngeal lymphoid hypertrophy, whole exome sequencing
Relation: https://doi.org/10.1002/ajmg.a.62492; Am J Med Genet A. 2021 Sep 13. doi:10.1002/ajmg.a.62492.; https://rde.dspace-express.com/handle/11287/622129; American journal of medical genetics. Part A
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4Academic Journal
المؤلفون: von der Lippe, C., Frich, J., Harris, A., Solbraekke, K.N.
المصدر: von der Lippe , C , Frich , J , Harris , A & Solbraekke , K N 2019 , ' Fabry disease: Female perspectives ' , European Journal of Human Genetics , vol. 27 , pp. 682-683 . https://doi.org/10.1038/s41431-019-0404-7
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5Academic Journal
المؤلفون: Moortgat, S, Berland, S, Maystadt, I, Baker, I, Wilkie, A, Benoit, V, Caro-Llopis, A, Cooper, N, Debray, F, Faivre, L, Gardeitchik, T, Haukanes, B, Houge, G, Kivuva, E, Martinez, F, Mehta, S, Nassogne, M, Powell-Hamilton, N, Pfundt, R, Rosello, M, Prescott, T, Vasudevan, P, van Loon, B, Verellen-Dumoulin, C, Verloes, A, von der Lippe, C, Wakeling, E, Wilson, L, Yuen, A, Low, K, Newbury-Ecob, R
Relation: https://ora.ox.ac.uk/objects/uuid:6ec021fe-43a3-4eb9-8359-199206c6a7b9; https://doi.org/10.1038/s41431-017-0038-6
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6Conference
المؤلفون: Sprengel, K, Piller, A, Pereira, A, von der Lippe, C, Rüeger, S, Simmen, HP, Wanner, G, Werner, C
المصدر: Deutscher Kongress für Orthopädie und Unfallchirurgie (DKOU 2013); 20131022-20131025; Berlin; DOCWI42-1492 /20131023/
مصطلحات موضوعية: Marknagel, Pseudarthrose, NSAR, ddc: 610
Relation: http://dx.doi.org/10.3205/13dkou295; http://nbn-resolving.de/urn:nbn:de:0183-13dkou2957; http://www.egms.de/en/meetings/dkou2013/13dkou295.shtml
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7Report
المؤلفون: Molven, A, Sövik, O, Von Der Lippe, C, Steine, S J, Njölstad, P R, Houge, G, Prescott, T E
المصدر: Tidsskrift for Den Norske Laegeforening. 129(22):2358
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8Academic Journal
المؤلفون: Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B., Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R., Bigoni, S., Ferlini, A., Andreucci, E., Donati, M. A., Genuardi, M., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Amorini, M., Briguglio, M., Briuglia, S., Rigoli, L., Salpietro, C., Tortorella, G., Adami, A., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Coppola, G., Del Giudice, E., Vitiello, G., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Macaluso, C., Signorini, S., Uggetti, C., Battini, R., Priolo, M., Cilio, M. R., D'Amico, A., Di Sabato, M. L., Emma, F., Leuzzi, V., Parisi, P., Stringini, G., Zanni, G., Pollazzon, M., Renieri, A., Vascotto, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., Mégarbané, A., Matuleviciene, A., Sabolic Avramovska, V., Said, E., De Jong, M. M., Prescott, T., Stromme, P., Von Der Lippe, C., Koul, R., Rajab, A., Azam, M., Barbot, C., Jocic-Jakubi, B., Gener Querol, B., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Strozzi, S., Fluss, J., Teber M, S., Topcu, M., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yüksel, A., Akgul, M., Akcakus, M., Al Gazali, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Sheridan, E., Barnicoat, A., Carr, L., Hennekam, R., Lees, M., McKay, F., Yates, L., Blair, E., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J., Viskochil, D.
المساهمون: Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B., Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R.
مصطلحات موضوعية: COACH syndrome, Congenital hepatic fibrosis, Joubert syndrome, Meckel syndrome, MKS3, TMEM67
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/20232449; info:eu-repo/semantics/altIdentifier/wos/WOS:000279982000001; volume:31; issue:5; firstpage:E1319; lastpage:E1331; numberofpages:12; journal:HUMAN MUTATION; http://hdl.handle.net/11365/37808; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77951821478
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9Conference
المؤلفون: Geib, K. M., Serkland, D. K., Keeler, G. A., Peake, G. M., Mar, A., von der Lippe, C. M., Liu, J. J.
المساهمون: ThomesJr., William J., Dickey, Fred M.
المصدر: SPIE Proceedings ; Optical Technologies for Arming, Safing, Fuzing, and Firing ; ISSN 0277-786X
الاتاحة: http://dx.doi.org/10.1117/12.617446
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10Academic Journal
المؤلفون: von der Lippe, C., Rustad, C., Heimdal, K., Rødningen, O.K.
المصدر: European Journal of Medical Genetics ; volume 54, issue 3, page 357-360 ; ISSN 1769-7212
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