-
1دورية أكاديمية
المؤلفون: Bengani, H, Handley, M, Alvi, M, Ibitoye, R, Lees, M, Lynch, SA, Lam, W, Fannemel, M, Nordgren, A, Malmgren, H, Kvarnung, M, Mehta, S, McKee, S, Whiteford, M, Stewart, F, Connell, F, Clayton-Smith, J, Mansour, S, Mohammed, S, Fryer, A, Morton, J, Grozeva, D, Asam, T, Moore, D, Sifrim, A, McRae, J, Hurles, ME, Firth, HV, Raymond, FL, Kini, U, Nellaker, C, FitzPatrick, DR
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 19(8):900-908
مصطلحات موضوعية: Medicin och hälsovetenskap
-
2دورية أكاديمية
المؤلفون: Moore, A.R., Yu, J., Pei, Y., Cheng, E.W.Y., Taylor Tavares, A.L., Walker, W.T., Thomas, N.S., Kamath, A., Ibitoye, R., Josifova, D., Wilsdon, A., Ross, A., Calder, A.D., Offiah, A.C., Wilkie, A.O.M., Genomics England Research Consortium, Taylor, J.C., Pagnamenta, A.T.
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/202596/1/jmg-2023-109362.full.pdfTest; Moore, A.R. orcid.org/0009-0007-9595-7786 , Yu, J., Pei, Y. et al. (15 more authors) (2023) Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project. Journal of Medical Genetics. ISSN 0022-2593
-
3دورية 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
-
4دورية 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
-
5دورية 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
-
6دورية أكاديمية
المؤلفون: Roberts, RE, Ahmad, H, Patel, M, Dima, D, Ibitoye, R, Sharif, M, Leech, R, Arshad, Q, Bronstein, AM
مصطلحات موضوعية: Oscillopsia, Vertigo, Vestibular compensation, Vestibular neuritis, Visual-cortex, fMRI, Adult, Aged, 80 and over, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Vestibular Neuronitis, Vestibule, Labyrinth, Visual Cortex
العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/30336357Test; NeuroImage: Clinical, 2018, 20, pp. 1010-1017; https://www.sciencedirect.com/science/article/pii/S2213158218303188?via%3DihubTest; http://hdl.handle.net/2381/44917Test; S2213-1582(18)30318-8
الإتاحة: https://doi.org/10.1016/j.nicl.2018.10.007Test
https://www.sciencedirect.com/science/article/pii/S2213158218303188?via%3DihubTest
http://hdl.handle.net/2381/44917Test -
7دورية أكاديمية
المؤلفون: Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., van Haeringen, A.
المصدر: European Journal of Human Genetics ; volume 27, issue 11, page 1677-1682 ; ISSN 1018-4813 1476-5438
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1038/s41431-019-0413-6Test
http://www.nature.com/articles/s41431-019-0413-6.pdfTest
http://www.nature.com/articles/s41431-019-0413-6Test -
8دورية أكاديمية
المؤلفون: Roberts, R.E., Ahmad, H., Patel, M., Dima, Danai, Ibitoye, R., Sharif, M., Leech, R., Arshad, Q., Bronstein, A.M.
المصدر: Roberts , R E , Ahmad , H , Patel , M , Dima , D , Ibitoye , R , Sharif , M , Leech , R , Arshad , Q & Bronstein , A M 2018 , ' An fMRI study of visuo-vestibular interactions following vestibular neuritis ' , NeuroImage: Clinical . https://doi.org/10.1016/j.nicl.2018.10.007Test
مصطلحات موضوعية: fMRI, Visual-cortex, Oscillopsia, Vertigo, Vestibular compensation, Vestibular neuritis
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.nicl.2018.10.007Test
https://kclpure.kcl.ac.uk/portal/en/publications/7d011f0f-fff0-4b2f-84b7-86c906362d33Test
https://kclpure.kcl.ac.uk/ws/files/101869996/An_fMRI_study_of_ROBERTS_9October2018_GOLD_AAM_CC_BY_NC_ND_.pdfTest -
9دورية أكاديمية
المؤلفون: Ibitoye, R, Mallas, E-J, Bourke, N, Kaski, D, Bronstein, A, Sharp, D
المساهمون: Medical Research Council (MRC), Dunhill Medical Trust, Imperial College Healthcare NHS Trust- BRC Funding, National Institute for Health Research, UK DRI Ltd
مصطلحات موضوعية: 1109 Neurosciences, 1701 Psychology, 1702 Cognitive Sciences, Experimental Psychology
العلاقة: Cerebral Cortex; http://hdl.handle.net/10044/1/95070Test; MR/J004685/1; R481/0516; RDC04 79560; RDC04; NIHR-RP-011-048; DRI-CORE2020-CRT
-
10دورية أكاديمية
المؤلفون: Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J, Borras S, Clark C, Dean J, Miedzybrodzka Z, Ross A, Tennant S, Dabir T, Donnelly D, Humphreys M, Magee A, McConnell V, McKee S, McNerlan S, Morrison PJ, Rea G, Stewart F, Cole T, Cooper N, Cooper-Charles L, Cox H, Islam L, Jarvis J, Keelagher R, Lim D, McMullan D, Morton J, Naik S, O'Driscoll M, Ong K-R, Osio D, Ragge N, Turton S, Vogt J, Williams D, Bodek S, Donaldson A, Hills A, Low K, Newbury-Ecob R, Norman AM, Roberts E, Scurr I, Smithson S, Tooley M, Abbs S, Armstrong R, Dunn C, Holden S, Park S-M, Paterson J, Raymond L, Reid E, Sandford R, Simonic I, Tischkowitz M, Woods G, Bradley L, Comerford J, Green A, Lynch S, McQuaid S, Mullaney B, Berg J, Goudie D, Mavrak E, McLean J, McWilliam C, Reavey E, Azam T, Cleary E, Jackson A, Lam W, Lampe A, Moore D, Porteous M, Baple E, Baptista J, Brewer C, Castle B, Kivuva E, Owens M, Rankin J, Shaw-Smith C, Turner C, Turnpenny P, Tysoe C, Bradley T, Davidson R, Gardiner C, Joss S, Kinning E, Longman C, McGowan R, Murday V, Pilz D, Tobias E, Whiteford M, Williams N, Barnicoat A, Clement E, Faravelli F, Hurst J, Jenkins L, Jones W, Kumar VKA, Lees M, Loughlin S, Male A, Morrogh D, Rosser E, Scott R, Wilson L, Beleza A, Deshpande C, Flinter F, Holder M, Irving M, Izatt L, Josifova D, Mohammed S, Molenda A, Robert L, Roworth W, Ruddy D, Ryten M, Yau S, Bennett C, Blyth M, Campbell J, Coates A, Dobbie A, Hewitt S, Hobson E, Jackson E, Jewell R, Kraus A, Prescott K, Sheridan E, Thomson J, Bradshaw K, Dixit A, Eason J, Haines R, Harrison R, Mutch S, Sarkar A, Searle C, Shannon N, Sharif A, Suri M, Vasudevan P, Canham N, Ellis I, Greenhalgh L, Howard E, Stinton V, Swale A, Weber A, Banka S, Breen C, Briggs T, Burkitt-Wright E, Chandler K, Clayton-Smith J, Donnai D, Douzgou S, Gaunt L, Jones E, Kerr B, Langley C, Metcalfe K, Smith A, Wright R, Bourn D, Burn J, Fisher R, Hellens S, Henderson A, Montgomery T, Splitt M, Straub V, Wright M, Zwolinski S, Allen Z, Bernhard B, Brady A, Brooks C, Busby L, Clowes V, Ghali N, Holder S, Ibitoye R, Wakeling E, Blair E, Carmichael J, Cilliers D, Clasper S, Gibbons R, Kini U, Lester T, Nemeth A, Poulton J, Price S, Shears D, Stewart H, Wilkie A, Albaba S, Baker D, Balasubramanian M, Johnson D, Parker M, Quarrell O, Stewart A, Willoughby J, Crosby C, Elmslie F, Homfray T, Jin H, Lahiri N, Mansour S, Marks K, McEntagart M, Saggar A, Tatton-Brown K, Butler R, Clarke A, Corrin S, Fry A, Kamath A, McCann E, Mugalaasi H, Pottinger C, Procter A, Sampson J, Sansbury F, Varghese V, Baralle D, Callaway A, Cassidy EJ, Daniels S, Douglas A, Foulds N, Hunt D, Kharbanda M, Lachlan K, Mercer C, Side L, Temple IK, Wellesley D, Wright CF, FitzPatrick DR, Firth HV, Hurles ME
المصدر: Nature Communications, December 2021
وصف الملف: application/pdf
النص الكامل