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1دورية أكاديمية
المؤلفون: Konrad, E.D.H. (Enrico D. H.), Nardini, N. (Niels), Caliebe, A. (Almuth), Nagel, I. (Inga), Young, D. (Dana), Horvath, G. (Gabriella), Santoro, S.L. (Stephanie L.), Shuss, C. (Christine), Ziegler, A. (Alban), Bonneau, D. (Dominique), Kempers, M.J.E. (Marlies), Pfundt, R. (Rolph), Legius, E. (Eric), Bouman, A. (Arjan), Stuurman, K.E. (Kyra E.), Õunap, K. (Katrin), Pajusalu, S. (Sander), Wojcik, M.H. (Monica H.), Vasileiou, G. (Georgia), Le Guyader, G. (Gwenaël), Schnelle, H.M. (Hege M.), Berland, S. (Siren), Zonneveld-Huijssoon, E. (Evelien), Kersten, S. (Simone), Gupta, A. (Aditi), Blackburn, P.R. (Patrick R.), Ellingson, M.S. (Marissa S.), Ferber, M.J. (Matthew J.), Dhamija, R. (Radhika), Klee, E.W. (Eric W.), McEntagart, M. (Meriel), Lichtenbelt, K.D. (Klaske), Kenney, A. (Amy), Vergano, S.A. (Samantha A.), Abou Jamra, R. (Rami), Platzer, K. (Konrad), Ella Pierpont, M. (Mary), Khattar, D. (Divya), Hopkin, R., Martin, R.J. (Richard J.), Jongmans, M.C.J. (Marjolijn), Chang, V.Y. (Vivian Y.), Martinez-Agosto, J.A. (Julian A.), Kuismin, O. (Outi), Kurki, M.I. (Mitja I.), Pietiläinen, O.P.H. (Olli), Palotie, A. (Aarno), Maarup, T.J. (Timothy J.), Johnson, D. (David), Venborg Pedersen, K. (Katja), Laulund, L.W. (Lone W.), Lynch, S.A. (Sally A.), Blyth, M. (Moira), Prescott, K. (Katrina), Canham, N. (Natalie), Ibitoye, R. (Rita), Brilstra, E.H. (Eva H.), Shinawi, M. (Marwan), Fassi, E. (Emily), Sticht, H. (Heinrich), Gregor, A. (Anne), Esch, H. (Hilde) van, Zweier, C. (Christiane)
المصدر: Genetics in Medicine
مصطلحات موضوعية: chromatin organization, CTCF, Drosophila melanogaster, intellectual disability, neurodevelopmental disorders
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/117622Test; urn:hdl:1765/117622
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2دورية أكاديمية
المؤلفون: Konrad, E. D. (Enrico D. H.), Nardini, N. (Niels), Caliebe, A. (Almuth), Nagel, I. (Inga), Young, D. (Dana), Horvath, G. (Gabriella), Santoro, S. L. (Stephanie L.), Shuss, C. (Christine), Ziegler, A. (Alban), Bonneau, D. (Dominique), Kempers, M. (Marlies), Pfundt, R. (Rolph), Legius, E. (Eric), Bouman, A. (Arjan), Stuurman, K. E. (Kyra E.), Õunap, K. (Katrin), Pajusalu, S. (Sander), Wojcik, M. H. (Monica H.), Vasileiou, G. (Georgia), Le Guyader, G. (Gwenaël), Schnelle, H. M. (Hege M.), Berland, S. (Siren), Zonneveld-Huijssoon, E. (Evelien), Kersten, S. (Simone), Gupta, A. (Aditi), Blackburn, P. R. (Patrick R.), Ellingson, M. S. (Marissa S.), Ferber, M. J. (Matthew J.), Dhamija, R. (Radhika), Klee, E. W. (Eric W.), McEntagart, M. (Meriel), Lichtenbelt, K. D. (Klaske D.), Kenney, A. (Amy), Vergano, S. A. (Samantha A.), Jamra, R. A. (Rami Abou), Platzer, K. (Konrad), Pierpont, M. E. (Mary Ella), Khattar, D. (Divya), Hopkin, R. J. (Robert J.), Martin, R. J. (Richard J.), Jongmans, M. C. (Marjolijn C. J.), Chang, V. Y. (Vivian Y.), Martinez-Agosto, J. A. (Julian A.), Kuismin, O. (Outi), Kurki, M. I. (Mitja I.), Pietiläinen, O. (Olli), Palotie, A. (Aarno), Maarup, T. J. (Timothy J.), Johnson, D. S. (Diana S.), Venborg Pedersen, K. (Katja), Laulund, L. W. (Lone W.), Lynch, S. A. (Sally A.), Blyth, M. (Moira), Prescott, K. (Katrina), Canham, N. (Natalie), Ibitoye, R. (Rita), Brilstra, E. H. (Eva H.), Shinawi, M. (Marwan), Fassi, E. (Emily), Study, D. (DDD), Sticht, H. (Heinrich), Gregor, A. (Anne), Van Esch, H. (Hilde), Zweier, C. (Christiane)
مصطلحات موضوعية: CTCF, Drosophila melanogaster, chromatin organization, intellectual disability, neurodevelopmental disorders
وصف الملف: application/pdf
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3دورية أكاديمية
المؤلفون: Konrad, EDH, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, SL, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E, Bouman, A, Stuurman, KE, Õunap, K, Pajusalu, S, Wojcik, MH, Vasileiou, G, Le Guyader, G, Schnelle, HM, Berland, S, Zonneveld-Huijssoon, E, Kersten, S, Gupta, A, Blackburn, PR, Ellingson, MS, Ferber, MJ, Dhamija, R, Klee, EW, McEntagart, M, Lichtenbelt, KD, Kenney, A, Vergano, SA, Abou Jamra, R, Platzer, K, Ella Pierpont, M, Khattar, D, Hopkin, RJ, Martin, RJ, Jongmans, MCJ, Chang, VY, Martinez-Agosto, JA, Kuismin, O, Kurki, MI, Pietiläinen, O, Palotie, A, Maarup, TJ, Johnson, DS, Venborg Pedersen, K, Laulund, LW, Lynch, SA, Blyth, M, Prescott, K, Canham, N, Ibitoye, R, Brilstra, EH, Shinawi, M, Fassi, E, DDD Study, Sticht, H, Gregor, A, Van Esch, H, Zweier, C
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111563/1/s41436-019-0585-z.pdfTest; Konrad, EDH; Nardini, N; Caliebe, A; Nagel, I; Young, D; Horvath, G; Santoro, SL; Shuss, C; Ziegler, A; Bonneau, D; et al. Konrad, EDH; Nardini, N; Caliebe, A; Nagel, I; Young, D; Horvath, G; Santoro, SL; Shuss, C; Ziegler, A; Bonneau, D; Kempers, M; Pfundt, R; Legius, E; Bouman, A; Stuurman, KE; Õunap, K; Pajusalu, S; Wojcik, MH; Vasileiou, G; Le Guyader, G; Schnelle, HM; Berland, S; Zonneveld-Huijssoon, E; Kersten, S; Gupta, A; Blackburn, PR; Ellingson, MS; Ferber, MJ; Dhamija, R; Klee, EW; McEntagart, M; Lichtenbelt, KD; Kenney, A; Vergano, SA; Abou Jamra, R; Platzer, K; Ella Pierpont, M; Khattar, D; Hopkin, RJ; Martin, RJ; Jongmans, MCJ; Chang, VY; Martinez-Agosto, JA; Kuismin, O; Kurki, MI; Pietiläinen, O; Palotie, A; Maarup, TJ; Johnson, DS; Venborg Pedersen, K; Laulund, LW; Lynch, SA; Blyth, M; Prescott, K; Canham, N; Ibitoye, R; Brilstra, EH; Shinawi, M; Fassi, E; DDD Study; Sticht, H; Gregor, A; Van Esch, H; Zweier, C (2019) CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med, 21 (12). pp. 2723-2733. ISSN 1530-0366 https://doi.org/10.1038/s41436-019-0585-zTest SGUL Authors: McEntagart, Meriel
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4دورية أكاديمية
المؤلفون: Mirzaa, G, Timms, A, Conti, V, Boyle, E, Girisha, K, Martin, B, Kircher, M, Olds, C, Juusola, J, Collins, S, Park, K, Carter, M, Glass, I, Krägeloh-Mann, I, Chitayat, D, Parikh, A, Bradshaw, R, Torti, E, Braddock, S, Burke, L, Ghedia, S, Stephan, M, Stewart, F, Prasad, C, Napier, M, Saitta, S, Straussberg, R, Gabbett, M, O'Connor, B, Keegan, C, Yin, L, Lai, A, Martin, N, McKinnon, M, Addor, M, Boccuto, L, Schwartz, C, Lanoel, A, Conway, R, Devriendt, K, Tatton-Brown, K, Pierpont, M, Painter, M, Worgan, L, Reggin, J, Hennekam, R, Tsuchiya, K, Pritchard, C, Aracena, M, Gripp, K, Cordisco, M, Esch, H, Garavelli, L, Curry, C, Goriely, A, Kayserilli, H, Shendure, J, Graham, J, Guerrini, R, Dobyns, W
العلاقة: https://ora.ox.ac.uk/objects/uuid:044d410a-7ef6-4428-80de-8430ad4bfc90Test; https://doi.org/10.1172/jci.insight.87623Test
الإتاحة: https://doi.org/10.1172/jci.insight.87623Test
https://ora.ox.ac.uk/objects/uuid:044d410a-7ef6-4428-80de-8430ad4bfc90Test -
5دورية أكاديمية
المؤلفون: Heinen, C. A., Jongejan, A., Watson, Peter J., Redeker, B., Boelen, A., Boudzovitch-Surovtseva, O., Forzano, F., Hordijk, R., Kelley, R., Olney, A. H., Pierpont, M. E., Schaefer, G. B., Stewart, F., van Trotsenburg, A. S. P., Fliers, E., Schwabe, John W. R., Hennekam, R. C.
العلاقة: Journal of Medical Genetics, 2016 (Online First); http://jmg.bmj.com/content/early/2016/01/14/jmedgenet-2015-103233Test; http://hdl.handle.net/2381/37300Test
الإتاحة: https://doi.org/10.1136/jmedgenet-2015-103233Test
http://jmg.bmj.com/content/early/2016/01/14/jmedgenet-2015-103233Test
http://hdl.handle.net/2381/37300Test -
6دورية أكاديمية
المؤلفون: Koczkowska M., Callens T., Chen Y., Gomes A., Hicks A. D., Sharp A., Johns E., Uhas K. A., Armstrong L., Bosanko K. A., Babovic-Vuksanovic D., Baker L., Basel D. G., Bengala M., Bennett J. T., Chambers C., Clarkson L. K., Clementi M., Cortes F. M., Cunningham M., D'Agostino M. D., Delatycki M. B., Digilio M. C., Dosa L., Esposito S., Fox S., Freckmann M. -L., Fauth C., Giugliano T., Giustini S., Goetsch A., Goldberg Y., Greenwood R. S., Griffis C., Gripp K. W., Gupta P., Haan E., Hachen R. K., Haygarth T. L., Hernandez-Chico C., Hodge K., Hopkin R. J., Hudgins L., Janssens S., Keller K., Kelly-Mancuso G., Kochhar A., Korf B. R., Lewis A. M., Liebelt J., Lichty A., Listernick R. H., Lyons M. J., Maystadt I., Martinez Ojeda M., McDougall C., McGregor L. K., Melis D., Mendelsohn N., Nowaczyk M. J. M., Ortenberg J., Panzer K., Pappas J. G., Pierpont M. E., Piluso G., Pinna V., Pivnick E. K., Pond D. A., Powell C. M., Rogers C., Ruhrman Shahar N., Rutledge S. L., Saletti V., Sandaradura S. A., Santoro C., Schatz U. A., Schreiber A., Scott D. A., Sellars E. A., Sheffer R., Siqveland E., Slopis J. M., Smith R., Spalice A., Stockton D. W., Streff H., Theos A., Tomlinson G. E., Tran G., Trapane P. L., Trevisson E., Ullrich N. J., Van den Ende J., Schrier Vergano S. A., Wallace S. E., Wangler M. F., Weaver D. D., Yohay K. H., Zackai E., Zonana J., Zurcher V., Claes K. B. M., Eoli M., Martin Y., Wimmer K., De Luca A., Legius E., Messiaen L. M.
المساهمون: Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortes, F. M., Cunningham, M., D'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. -L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernandez-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., Mcdougall, C., Mcgregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pinna, V., Pivnick, E. K., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J.
مصطلحات موضوعية: genotype–phenotype correlation, NF1, p.Arg1276, p.Lys1423, p.Met1149
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31595648; info:eu-repo/semantics/altIdentifier/wos/WOS:000492598500001; volume:41; issue:1; firstpage:299; lastpage:315; numberofpages:17; journal:HUMAN MUTATION; http://hdl.handle.net/11577/3324233Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074609550; http://onlinelibrary.wiley.com/journal/10.1002Test/(ISSN)1098-1004
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7دورية أكاديمية
المؤلفون: Mirzaa, G., Timms, A. E., Conti, V., Boyle, E. A., Girisha, K. M., Martin, B., Kircher, M., Olds, C., Juusola, J., Inestrosa Cantín, Nibaldo, Aracena Álvarez, Mariana Inés, Collins, S., Park, K., Carter, M., Glass, I., Krogeloh-Mann, I., Chitayat, D., Parikh, A. S., Bradshaw, R., Torti, E., Braddock, S., Burke, L., Ghedia, S., Stephan, M., Stewart, F., Prasad, C., Napier, M., Saitta, S., Straussberg, R., Gabbett, M., O'Connor, B. C., Keegan, C. E., Yin, L. J., Lai, A. H. M., Martin, N., McKinnon, M., Addor, M. C., Boccuto, L., Schwartz, C. E., Lanoel, A., Conway, R. L., Devriendt, K., Tatton-Brown, K., Pierpont, M. E., Painter, M., Worgan, L., Reggin, J., Hennekam, R., Tsuchiya, K., Pritchard, C. C., Gripp, K. W., Cordisco, M., Van Esch, H., Garavelli, L., Curry, C., Goriely, A., Kayserilli, H., Shendure, J., Graham, J., Guerrini, R., Dobyns, W. B.
وصف الملف: 18 páginas; application/pdf
العلاقة: https://doi.org/10.1172/jci.insight.87623Test; https://repositorio.uc.cl/handle/11534/58046Test
الإتاحة: https://doi.org/10.1172/jci.insight.87623Test
https://repositorio.uc.cl/handle/11534/58046Test -
8دورية أكاديمية
المؤلفون: Pierpont, E. I., Pierpont, M. E., Mendelsohn, N. J., Roberts, A. E., Tworog‐Dube, E., Seidenberg, M. S.
المصدر: Genes, Brain and Behavior ; volume 8, issue 3, page 275-282 ; ISSN 1601-1848 1601-183X
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9دورية أكاديمية
المؤلفون: Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, United Kingdom (M.U., M.D., N.T., N.C., S. Griffiths, C.C.) ( host institution ), Upadhyaya, M. ( author ), Huson, S.M. ( author ), Davies, M. ( author ), Thomas, N. ( author ), Chuzhanova, N. ( author ), Giovannini, S. ( author ), Evans, D.G. ( author ), Howard, E. ( author ), Kerr, B. ( author ), Griffiths, S. ( author ), Consoli, C. ( author ), Side, L. ( author ), Adams, D. ( author ), Pierpont, M. ( author ), Hachen, R. ( author ), Barnicoat, A. ( author ), Li, H. ( UF author ), Wallace, P. ( UF author ), Van Biervliet, J.P. ( author ), Stevenson, D. ( author ), Viskochil, D. ( author ), Baralle, D. ( author ), Haan, E. ( author ), Riccardi, V. ( author ), Turnpenny, P. ( author ), Lazaro, C. ( author ), Messiaen, L. ( author )
وصف الملف: Pages 140-151
العلاقة: The American Journal of Human Genetics; S0002929707609288; http://ufdc.ufl.edu/LS00500746/00001Test
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10دورية أكاديمية
المؤلفون: Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, United Kingdom (M.U., M.D., N.T., N.C., S. Griffiths, C.C.) ( host institution ), Upadhyaya, M., Huson, S.M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D.G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J.P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., Messiaen, L.
وصف الملف: [Elsevier APIv3]
العلاقة: The American Journal of Human Genetics; http://ufdc.ufl.edu/LS00000017/00003Test
النص الكامل