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1Academic Journal
المؤلفون: Denommé-Pichon, A.S., Collins, S.C., Bruel, A.L., Mikhaleva, A., Wagner, C., Vancollie, V.E., Thomas, Q., Chevarin, M., Weber, M., Prada, C.E., Overs, A., Palomares-Bralo, M., Santos-Simarro, F., Pacio-Míguez, M., Busa, T., Legius, E., Bacino, C.A., Rosenfeld, J.A., Le Guyader, G., Egloff, M., Le Guillou, X., Mencarelli, M.A., Renieri, A., Grosso, S., Levy, J., Dozières, B., Desguerre, I., Vitobello, A., Duffourd, Y., Lelliott, C.J., Thauvin-Robinet, C., Philippe, C., Faivre, L., Yalcin, B.
المصدر: Genetics in medicine, vol. 25, no. 7, pp. 100835
مصطلحات موضوعية: Humans, Animals, Mice, Brain/abnormalities, Lissencephaly/genetics, Neurodevelopmental Disorders, Classical Lissencephalies and Subcortical Band Heterotopias, Intellectual Disability/genetics, 14-3-3 Proteins/genetics, 14-3-3, Brain abnormalities, Miller-Dieker syndrome, YWHAE
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/36999555; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_1608AF26CE533; https://serval.unil.ch/notice/serval:BIB_1608AF26CE53; https://serval.unil.ch/resource/serval:BIB_1608AF26CE53.P001/REF.pdf
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2Academic Journal
المؤلفون: Collins, S.C., Vancollie, V.E., Mikhaleva, A., Wagner, C., Balz, R., Lelliott, C.J., Yalcin, B.
المصدر: International journal of molecular sciences, vol. 23, no. 19, pp. 11509
مصطلحات موضوعية: Animals, CHARGE Syndrome/diagnosis, CHARGE Syndrome/genetics, Corpus Callosum/metabolism, DNA Helicases/genetics, DNA Helicases/metabolism, DNA-Binding Proteins/genetics, DNA-Binding Proteins/metabolism, Insulins/genetics, Mice, Mutation, CHARGE syndrome, CHD7, dysgenesis of the corpus callosum, mouse models, neurodevelopmental disorders
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/36232804; info:eu-repo/semantics/altIdentifier/eissn/1422-0067; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_A2E911704AC59; https://serval.unil.ch/notice/serval:BIB_A2E911704AC5; https://serval.unil.ch/resource/serval:BIB_A2E911704AC5.P001/REF.pdf
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3Academic Journal
المؤلفون: Butterfield, N.C., Curry, K.F., Steinberg, J., Dewhurst, H., Komla-Ebri, D., Mannan, N.S., Adoum, A.-T., Leitch, V.D., Logan, J.G., Waung, J.A., Ghirardello, E., Southam, L., Youlten, S.E., Wilkinson, J.M., McAninch, E.A., Vancollie, V.E., Kussy, F., White, J.K., Lelliott, C.J., Adams, D.J., Jacques, R., Bianco, A.C., Boyde, A., Zeggini, E., Croucher, P.I., Williams, G.R., Bassett, J.H.D.
وصف الملف: text
Relation: https://eprints.whiterose.ac.uk/170315/1/s41467-020-20761-5.pdf; Butterfield, N.C., Curry, K.F., Steinberg, J. et al. (24 more authors) (2021) Accelerating functional gene discovery in osteoarthritis. Nature Communications, 12 (1). 467. ISSN 2041-1723
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4Academic Journal
المؤلفون: Collins, S.C., Mikhaleva, A., Vrcelj, K., Vancollie, V.E., Wagner, C., Demeure, N., Whitley, H., Kannan, M., Balz, R., Anthony, LFE, Edwards, A., Moine, H., White, J.K., Adams, D.J., Reymond, A., Lelliott, C.J., Webber, C., Yalcin, B.
المصدر: Nature communications, vol. 10, no. 1, pp. 3465
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/31371714; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_919CC4A77FE29; https://serval.unil.ch/notice/serval:BIB_919CC4A77FE2; https://serval.unil.ch/resource/serval:BIB_919CC4A77FE2.P001/REF.pdf
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5Academic Journal
المؤلفون: Butterfield, N.C., Curry, K.F., Steinberg, J., Dewhurst, H., Komla-Ebri, D., Mannan, N.S., Adoum, A.T., Leitch, V.D., Logan, J.G., Waung, J.A., Ghirardello, E., Southam, L., Youlten, S.E., Wilkinson, J.M., McAninch, E.A., Vancollie, V.E., Kussy, F., White, J.K., Lelliott, C.J., Adams, D.J., Jacques, R., Bianco, A.C., Boyde, A., Zeggini, E., Croucher, P.I., Williams, G.R., Bassett, J.H.D.
المصدر: Nat. Commun. 12:3302 (2021)
Relation: info:eu-repo/semantics/altIdentifier/pmid/34050183; info:eu-repo/semantics/altIdentifier/isbn/2041-1723; info:eu-repo/semantics/altIdentifier/pissn/2041-1723; info:eu-repo/semantics/altIden
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6Academic Journal
المؤلفون: Jeanne, M., Vuillaume, M.L., Ung, D.C., Vancollie, V.E., Wagner, C., Collins, S.C., Vonwill, S., Haye, D., Chelloug, N., Pfundt, R.P., Kummeling, J., Moizard, M.P., Marouillat, S., Kleefstra, T., Yalcin, B., Laumonnier, F., Toutain, A.
المصدر: Human Genetics, 140, 6, pp. 885-896
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
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7Academic Journal
المؤلفون: Simon, M.M., Greenaway, S., White, J.K., Fuchs, H., Gailus-Durner, V., Sorg, T., Wong, K., Bedu, E., Cartwright, E.J., Dacquin, R., Estabel, J., Graw, J., Ingham, N.J., Jackson, I.J., Lengeling, A., Mandillo, S., Marvel, J., Meziane, H., Preitner, F., Puk, O., Roux, M., Adams, D.J., Atkins, S., Ayadi, A., Becker, L., Blake, A., Brooker, D., Cater, H., Champy, M.-F., Combe, R., Danecek, P., di Fenza, A., Gates, H., Gerdin, A.-K., Golini, E., Hancock, J.M., Hans, W., Hölter, S.M., Hough, T., Jurdic, P., Keane, T.M, Morgan, H., Müller, W., Neff, F., Nicholson, G., Pasche, B., Roberson, L.-A., Rozman, J., Sanderson, M., Santos, L., Selloum, M., Shannon, C., Southwell, A., Tocchini-Valentini, G.P., Vancollie, V.E., Wells, S., Westerberg, H., Wurst, W., Zi, M., Yalcin, B., Ramirez-Solis, R., Steel, K.P., Mallon, A.-M., Hrabě de Angelis, M., Herault, Y., Brown, S.D.M.
المصدر: Genome Biol. 14:R82 (2013)
مصطلحات موضوعية: Mouse Inbred Lines, Sequence Variation, Mouse Phenotyping, Gene Knockout, C57bl/6
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/23902802; info:eu-repo/semantics/altIdentifier/wos/WOS:000328194900014; info:eu-repo/semantics/altIdentifier/isbn/1465-6906; info:eu-repo/semantics/a; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=26715; urn:isbn:1465-6906; urn:issn:1474-760X; urn:issn:1465-6906
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8Academic Journal
المؤلفون: Duncan, A.R. (Anna R.), Vitobello, A. (Antonio), Collins, S.C. (Stephan C.), Vancollie, V.E. (Valerie E.), Lelliott, C.J. (Christopher J.), Rodan, L. (Lance), Shi, J. (Jiahai), Seman, A.R. (Ann R.), Agolini, E. (Emanuele), Novelli, A. (Antonio), Prontera, P. (Paolo), Guillen Sacoto, M.J. (Maria J.), Santiago-Sim, T. (Teresa), Trimouille, A. (Aurélien), Goizet, C. (Cyril), Nizon, M. (Mathilde), Bruel, A.-L. (Ange-Line), Philippe, C. (Christophe), Grant, P.E. (Patricia E.), Wojcik, M.H. (Monica H.), Stoler, J. (Joan), Genetti, C.A. (Casie A.), Dooren, M.F. (Marieke) van, Maas, S.M. (Saskia), Alders, M. (Mariëlle), Faivre, L. (Laurence), Sorlin, A. (Arthur), Yoon, G. (Grace), Yalcin, B. (Binnaz), Agrawal, P.B. (Pankaj B.)
المصدر: American Journal of Human Genetics vol. 107 no. 6, pp. 1170-1177
مصطلحات موضوعية: agenesis of the corpus callosum, dysmorphic hippocampi, global developmental delay, heterozygous variant, intellectual disability, JMJD2B, KDM4B, neurodevelopmental disorder
وصف الملف: application/pdf
Relation: https://repub.eur.nl/pub/132482; urn:hdl:1765/132482
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9Academic Journal
المؤلفون: Kannan, M., Bayam, E., Wagner, C., Rinaldi, B., Kretz, P.F., Tilly, P., Roos, M., McGillewie, L., Bär, S., Minocha, S., Chevalier, C., Po, C., Chelly, J., Mandel, J.L., Borgatti, R., Piton, A., Kinnear, C., Loos, B., Adams, D.J., Hérault, Y., Collins, S.C., Friant, S., Godin, J.D., Yalcin, B.
المساهمون: Sanger Mouse Genetics Project, Vancollie, V.E., Anthony, LFE, Maguire, S.A., Lafont, D., Pearson, S.A., Gates, A.S., Sanderson, M., Shannon, C., Sumowski, M.T., McLaren-Jones, RSB, Swiatkowska, A., Isherwood, C.M., Cambridge, E.L., Wilson, H.M., Caetano, S.S., Maguire, AKB, Galli, A., Speak, A.O., Dench, J., Tuck, E., Estabel, J., Green, A., Tudor, C., Siragher, E., Dabrowska, M., Mazzeo, C.I., Hooks, Y., Kussy, F., Griffiths, M., Gannon, D., Doe, B., Boroviak, K., Wardle-Jones, H., Griggs, N., Bottomley, J., Ryder, E., Gleeson, D., White, J.K., Ramirez-Solis, R., Lelliott, C.J.
المصدر: Proceedings of the National Academy of Sciences of the United States of America, vol. 114, no. 44, pp. E9308-E9317
مصطلحات موضوعية: Animals, Autophagy/physiology, Brain/growth & development, Brain/metabolism, Cell Movement/physiology, Cell Proliferation/physiology, Cells, Cultured, Female, Male, Mice, Inbred C57BL, Microfilament Proteins/metabolism, Microtubule-Associated Proteins/metabolism, Microtubules/metabolism, Microtubules/physiology, Neurogenesis/physiology, Neurons/metabolism, Neurons/physiology, Phenotype, Stem Cells/metabolism, Stem Cells/physiology, WD40 Repeats/physiology, WD40-repeat proteins, autophagy, corpus callosum agenesis, microcephaly, neurogenesis
Relation: info:eu-repo/semantics/altIdentifier/pmid/29078390; info:eu-repo/semantics/altIdentifier/eissn/1091-6490; https://serval.unil.ch/notice/serval:BIB_A5572D57FB12
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