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1دورية أكاديمية
المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, de Villemeur, TB, Heron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, CR, Soerensen, KP, Kibaek, M, Kamsteeg, EJ, Koolen, DA, Gunning, B, Schelhaas, HJ, Kruer, MC, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, SC, Zeng, X, Bilguvar, K, Papavasileiou, A, Xin, QH, Zhu, CL, Boysen, K, Vairo, F, Lanpher, BC, Klee, EW, Tillema, JM, Payne, ET, Cousin, MA, Kruisselbrink, TM, Wick, MJ, Baker, J, Haan, E, Smith, N, Corbett, MA, MacLennan, AH, Gecz, J, Biskup, S, Goldmann, E, Rodan, LH, Kichula, E, Segal, E, Jackson, KE, Asamoah, A, Dimmock, D, McCarrier, J, Botto, LD, Filloux, F, Tvrdik, T, Cascino, GD, Klingerman, S, Neumann, C, Wang, R, Jacobsen, JC, Nolan, MA, Snell, RG, Lehnert, K, Sadleir, LG, Anderlid, BM, Kvarnung, M, Guerrini, R, Friez, MJ, Lyons, MJ, Leonhard, J, Kringlen, G, Casas, K, El Achkar, CM, Smith, LA, Rotenberg, A, Poduri, A, Sanchis-Juan, A, Carss, KJ, Rankin, J, Zeman, A, Raymond, FL, Blyth, M, Kerr, B, Ruiz, K, Urquhart, J, Hughes, I, Banka, S, Hedrich, UBS, Scheffer, IE, Helbig, I, Zamponi, GW, Lerche, H, Mefford, HC
المصدر: American journal of human genetics. 103(5):666-678
مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik
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2دورية أكاديمية
المؤلفون: Susgun, S., Ben-Mahmoud, A., Rüschendorf, F., Ku, B., Hussain, S.I., Schulz, S., Puk, O., Biskup, S., Labonne, J.D.J., Don, D.W., Gupta, V., Choi, T.I., Khan, S., Wasif, N., Lacassie, Y., Layman, L.C., Ugur Iseri, S.A., Kim, C.H., Kim, H.G.
مصطلحات موضوعية: Cardiovascular and Metabolic Diseases, Topic 1: Genes, Cells and Cell-Based Medicine
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
الإتاحة: https://doi.org/10.1155/2024/5518289Test
http://edoc.mdc-berlin.de/24024Test/
https://edoc.mdc-berlin.de/24024Test/
http://edoc.mdc-berlin.de/24024/1/24024oa.pdfTest
http://edoc.mdc-berlin.de/24024/2/24024suppl.docxTest -
3دورية أكاديمية
المؤلفون: Maurer MH, Kohler A, Hudemann M, Jüngling J, Biskup S, Menzel M
المصدر: The Application of Clinical Genetics, Vol Volume 15, Pp 125-131 (2022)
مصطلحات موضوعية: latrophilin-3, lphn3, adhesion g protein-coupled receptor l3, adgrl3, autism spectrum disorder, asd, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Daher, JPL, Pletnikova, O, Biskup, S, Musso, A, Gellhaar, S, Galter, D, Troncoso, JC, Lee, MK, Dawson, TM, Dawson, VL, Moore, DJ
المصدر: Human molecular genetics. 21(11):2420-2431
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Mao, K., Borel, C., Ansar, M., Jolly, A., Makrythanasis, P., Froehlich, C., Iwaszkiewicz, J., Wang, B., Xu, X., Li, Q., Blanc, X., Zhu, H., Chen, Q., Jin, F., Ankamreddy, H., Singh, S., Zhang, H., Wang, X., Chen, P., Ranza, E., Paracha, S.A., Shah, S.F., Guida, V., Piceci-Sparascio, F., Melis, D., Dallapiccola, B., Digilio, M.C., Novelli, A., Magliozzi, M., Fadda, M.T., Streff, H., Machol, K., Lewis, R.A., Zoete, V., Squeo, G.M., Prontera, P., Mancano, G., Gori, G., Mariani, M., Selicorni, A., Psoni, S., Fryssira, H., Douzgou, S., Marlin, S., Biskup, S., De Luca, A., Merla, G., Zhao, S., Cox, T.C., Groves, A.K., Lupski, J.R., Zhang, Q., Zhang, Y.B., Antonarakis, S.E.
المصدر: Nature communications, vol. 14, no. 1, pp. 2026
مصطلحات موضوعية: Animals, Mice, Goldenhar Syndrome/pathology, Facial Asymmetry, Pedigree, Forkhead Transcription Factors
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37041148; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0699EC8ECF822; https://serval.unil.ch/notice/serval:BIB_0699EC8ECF82Test; urn:issn:2041-1723; https://serval.unil.ch/resource/serval:BIB_0699EC8ECF82.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0699EC8ECF822Test
الإتاحة: https://doi.org/10.1038/s41467-023-37703-6Test
https://serval.unil.ch/notice/serval:BIB_0699EC8ECF82Test
https://serval.unil.ch/resource/serval:BIB_0699EC8ECF82.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0699EC8ECF822Test -
6دورية أكاديمية
المؤلفون: Mensah, M., Niskanen, H., Magalhães, A., Basu, S., Kircher, M., Sczakiel, H., Reiter, A., Elsner, J., Meinecke, P., Biskup, S., Chung, B., Dombrowsky, G., Eckmann-Scholz, C., Hitz, M., Hoischen, A., Holterhus, P., Hülsemann, W., Kahrizi, K., Kalscheuer, V., Kan, A., Krumbiegel, M., Kurth, I., Leubner, J., Longardt, A., Moritz, J., Najmabadi, H., Skipalova, K., Snijders Blok, L., Tzschach, A., Wiedersberg, E., Zenker, M., Garcia-Cabau, C., Buschow, R., Salvatella, X., Kraushar, M., Mundlos, S., Caliebe, A., Spielmann, M., Horn, D., Hnisz, D.
المصدر: Nature
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-000C-9EF0-3Test; http://hdl.handle.net/21.11116/0000-000C-9EF2-1Test
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7دورية أكاديمية
المؤلفون: Rensing-Ehl, A., Lorenz, M.R., Führer, M., Willenbacher, W., Willenbacher, E., Sopper, S., Abinun, M., Maccari, M.E., König, C., Haegele, P., Fuchs, S., Castro, C., Kury, P., Pelle, O., Klemann, C., Heeg, M., Thalhammer, J., Wegehaupt, O., Fischer, M., Goldacker, S., Schulte, B., Biskup, S., Chatelain, P., Schuster, V., Warnatz, K., Grimbacher, B., Meinhardt, A., Holzinger, D., Oommen, P.T., Hinze, T., Hebart, H., Seeger, K., Lehmberg, K., Leahy, T.R., Claviez, A., Vieth, S., Schilling, F.H., Fuchs, I., Groß, M., Rieux-Laucat, F., Magerus, A., Speckmann, C., Schwarz, K., Ehl, S.
مصطلحات موضوعية: Cancer Research
العلاقة: Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing. Rensing-Ehl, A. and Lorenz, M.R. and Führer, M. and Willenbacher, W. and Willenbacher, E. and Sopper, S. and Abinun, M. and Maccari, M.E. and König, C. and Haegele, P. and Fuchs, S. and Castro, C. and Kury, P. and Pelle, O. and Klemann, C. and Heeg, M. and Thalhammer, J. and Wegehaupt, O. and Fischer, M. and Goldacker, S. and Schulte, B. and Biskup, S. and Chatelain, P. and Schuster, V. and Warnatz, K. and Grimbacher, B. and Meinhardt, A. and Holzinger, D. and Oommen, P.T. and Hinze, T. and Hebart, H. and Seeger, K. and Lehmberg, K. and Leahy, T.R. and Claviez, A. and Vieth, S. and Schilling, F.H. and Fuchs, I. and Groß, M. and Rieux-Laucat, F. and Magerus, A. and Speckmann, C. and Schwarz, K. and Ehl, S. Journal of Allergy and Clinical Immunology 153 (1): 297-308. January 2024
الإتاحة: https://doi.org/10.1016/j.jaci.2023.11.006Test
http://edoc.mdc-berlin.de/23918Test/
https://edoc.mdc-berlin.de/23918Test/ -
8دورية أكاديمية
المؤلفون: Scala, M, Nishikawa, M, Ito, H, Tabata, H, Khan, T, Accogli, A, Davids, L, Ruiz, A, Chiurazzi, P, Cericola, G, Schulte, B, Monaghan, KG, Begtrup, A, Torella, A, Pinelli, M, Denomme-Pichon, AS, Vitobello, A, Racine, C, Mancardi, MM, Kiss, C, Guerin, A, Wu, W, Vila, EG, Mak, BC, Martinez-Agosto, JA, Gorin, MB, Duz, B, Bayram, Y, Carvalho, CMB, Vengoechea, JE, Chitayat, D, Tan, TY, Callewaert, B, Kruse, B, Bird, LM, Faivre, L, Zollino, M, Biskup, S, Striano, P, Nigro, V, Severino, M, Capra, V, Costain, G, Nagata, K-I
العلاقة: pii: 6628315; Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, P., Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. S., Vitobello, A., Racine, C., Mancardi, M. M. ,. Nagata, K. -I. (2022). Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. BRAIN, 145 (9), pp.3308-3327. https://doi.org/10.1093/brain/awac106Test.; http://hdl.handle.net/11343/318076Test
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9دورية أكاديمية
المؤلفون: Bögershausen, N., Krawczyk, H., Jamra, R., Lin, S., Yigit, G., Hüning, I., Polo, A., Vona, B., Huang, K., Schmidt, J., Altmüller, J., Luppe, J., Platzer, K., Dörgeloh, B., Busche, A., Biskup, S., Mendes, M., Smith, D., Salomons, G., Zibat, A., Bültmann, E., Nürnberg, P., Spielmann, M., Lemke, J., Li, Y., Zenker, M., Varshney, G., Hillen, H., Kratz, C., Wollnik, B.
المصدر: Human Mutations
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-000B-2BDE-CTest; http://hdl.handle.net/21.11116/0000-000B-2BE0-8Test
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10دورية أكاديمية
المؤلفون: Schmidt, J., Dreha-Kulaczewski, S., Zafeiriou, M.P., Schreiber, M.K., Wilken, B., Funke, R., Neuhofer, C.M., Altmüller, J., Thiele, H., Nürnberg, P., Biskup, S., Li, Y., Zimmermann, W.H., Kaulfuß, S., Yigit, G., Wollnik, B.
مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine
وصف الملف: application/pdf; other
العلاقة: http://edoc.mdc-berlin.de/22833/1/22833oa.pdfTest; http://edoc.mdc-berlin.de/22833/2/22833suppl.zipTest; Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum. Schmidt, J. and Dreha-Kulaczewski, S. and Zafeiriou, M.P. and Schreiber, M.K. and Wilken, B. and Funke, R. and Neuhofer, C.M. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Biskup, S. and Li, Y. and Zimmermann, W.H. and Kaulfuß, S. and Yigit, G. and Wollnik, B. Frontiers in Cell and Developmental Biology 10 : 1025332. 16 November 2022
الإتاحة: https://doi.org/10.3389/fcell.2022.1025332Test
http://edoc.mdc-berlin.de/22833Test/
https://edoc.mdc-berlin.de/22833Test/
http://edoc.mdc-berlin.de/22833/1/22833oa.pdfTest
http://edoc.mdc-berlin.de/22833/2/22833suppl.zipTest
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