يعرض 1 - 20 نتائج من 291 نتيجة بحث عن '"Amor DJ"', وقت الاستعلام: 0.54s تنقيح النتائج
  1. 1
    Academic Journal
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    Academic Journal

    المصدر: American journal of human genetics. 108(3):502-516

    مصطلحات موضوعية: Medicin och hälsovetenskap

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    Academic Journal
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    Academic Journal

    Relation: NHMRC/1105008; pii: 10.1038/s41380-024-02409-8; Morgan, A. T., Amor, D. J., St John, M. D., Scheffer, I. E. & Hildebrand, M. S. (2024). Genetic architecture of childhood speech disorder: a review. MOLECULAR PSYCHIATRY, https://doi.org/10.1038/s41380-024-02409-8.; http://hdl.handle.net/11343/344456

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    Academic Journal

    Relation: NHMRC/1105008; Forbes, E. J., Morison, L. D., Lelik, F., Howell, T., Debono, S., Goel, H., Burger, P., Mandel, J. -L., Geneviève, D., Amor, D. J. & Morgan, A. T. (2024). Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, https://doi.org/10.1002/ajmg.b.32971.; http://hdl.handle.net/11343/340539

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    Academic Journal

    Relation: NHMRC/1105008; pii: S1769-7212(24)00015-6; Morison, L. D., Van Reyk, O., Baker, E., Ruaud, L., Couque, N., Verloes, A., Amor, D. J. & Morgan, A. T. (2024). Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder. European Journal of Medical Genetics, 68, https://doi.org/10.1016/j.ejmg.2024.104923.; http://hdl.handle.net/11343/340540

  7. 7
    Academic Journal
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    Academic Journal

    المؤلفون: Bancroft, EK, Page, EC, Castro, E, Lilja, H, Vickers, A, Sjoberg, D, Assel, M, Foster, CS, Mitchell, G, Drew, K, Maehle, L, Axcrona, K, Evans, DG, Bulman, B, Eccles, D, McBride, D, van Asperen, C, Vasen, H, Kiemeney, LA, Ringelberg, J, Cybulski, C, Wokolorczyk, D, Selkirk, C, Hulick, PJ, Bojesen, A, Skytte, AB, Lam, J, Taylor, L, Oldenburg, R, Cremers, R, Verhaegh, G, van Zelst-Stams, WA, Oosterwijk, JC, Blanco, I, Salinas, M, Cook, J, Rosario, DJ, Buys, S, Conner, T, Ausems, MG, Ong, KR, Hoffman, J, Domchek, S, Powers, J, Teixeira, MR, Maia, S, Foulkes, WD, Taherian, N, Ruijs, M, Helderman-van den Enden, AT, Izatt, L, Davidson, R, Adank, MA, Walker, L, Schmutzler, R, Tucker, K, Kirk, J, Hodgson, S, Harris, M, Douglas, F, Lindeman, GJ, Zgajnar, J, Tischkowitz, M, Clowes, VE, Susman, R, Cajal, TRY, Patcher, N, Gadea, N, Spigelman, A, van Os, T, Liljegren, A, Side, L, Brewer, C, Brady, AF, Donaldson, A, Stefansdottir, V, Friedman, E, Chen-Shtoyerman, R, Amor, DJ, Copakova, L, Barwell, J, Giri, VN, Murthy, V, Nicolai, N, Teo, SH, Greenhalgh, L, Strom, S, Henderson, A, McGrath, J, Gallagher, D, Aaronson, N, Ardern-Jones, A, Bangma, C, Dearnaley, D, Costello, P, Eyfjord, J, Rothwell, J, Falconer, A, Gronberg, H, Hamdy, FC, Johannsson, O, Khoo, V, Kote-Jarai, Z, Lubinski, J, Axcrona, U, Melia, J, McKinley, J, Mitra, AV, Moynihan, C, Rennert, G, Suri, M, Wilson, P, Killick, E, Moss, S, Eeles, RA, Taylor, N, Pope, J, Saya, S, Martin, S, Keating, D, Petelin, L, Murphy, M, Doherty, R, Pratt, S, Murphy, D, Cleeve, L, Miller, C, Stapleton, A, Chong, M, Suthers, G, Andrews, L, Duffy, J, Millard, R, Ward, R, Williams, R, Stricker, P, Bowman, M, Patel, M, O'Connell, S, Hunt, C, Smyth, C, Frydenberg, M, Shackleton, K, McGaughran, J, Boon, M, Pachter, N, Townshend, S, Schofield, L, Gleeson, M, Scott, R, Burke, J, Patterson, B, Bacic, S, Swindle, P, Aprikian, A, Bojeson, A, Cruger, D, Osther, P, Gerdes, AM, Rhiem, K, Luedtke-Heckenkamp, K, Ochsendorf, N, Fiddike, K, Sarin, R, Awatagiri, K, Ghonge, S, Kowtal, P, Mulgund, G, Bambury, R, Farrell, M, Gallagher, F, Ben-Yehoshua, SJ, Nissani, R, Appelman, Z, Moriel, E, Radice, P, Valdagni, R, Magnani, T, Meng, TH, Yoon, SY, Thong, MK, Kiemeney, B, Van der Luijt, RB, Moller, P, Brennhovd, B, Medvik, H, Hanslien, E, Peixoto, A, Henrique, R, Oliveira, J, Goncalves, N, Araujo, L, Seixas, M, Joao, PS, Nogueira, P, Krajc, M, Vrecar, A, Capella, G, Fisas, D, Balmana, J, Morote, J, Hjalm-Eriksson, M, Ekdahl, KJ, Carlsson, S, Hanson, H, Shanley, S, Goh, C, Wiggins, J, Kohut, K, Van As, N, Thompson, A, Ogden, C, Borley, N, Woodhouse, C, Kumar, P, Mercer, C, Paterson, J, Taylor, A, Newcombe, B, Halliday, D, Stayner, B, Fleming-Brown, D, Brice, G, Homfray, T, Hammond, C, Potter, A, Renton, C, Searle, A, Hill, K, Goodman, S, Garcia, L, Devlin, G, Everest, S, Nadolski, M, Jobson, I, Paez, E, Tomkins, S, Pichert, G, Jacobs, C, Langman, C, Weston, M, Dorkins, H, Melville, A, Kosicka-Slawinska, M, Cummings, C, Kiesel, V, Bartlett, M, Randhawa, K, Ellery, N, Male, A, Simon, K, Rees, K, Compton, C, Tidey, L, Nevitt, L, Ingram, S, Catto, J, Howson, J, Chapman, C, Cole, T, Heaton, T, Burgess, L, Longmuir, M, Watt, C, Duncan, A, Kockelbergh, R, Sattar, A, Kaemba, B, Sidat, Z, Patel, N, Siguake, K, Birt, A, Poultney, U, Umez-Eronini, N, Mom, J, Roberts, G, Woodward, A, Sutton, V, Cornford, P, Treherne, K, Griffiths, J, Cogley, L, Rubinstein, W, Brendler, C, Helfand, B, McGuire, M, Kaul, K, Shevrin, D, Weissman, S, Newlin, A, Vogel, K, Weiss, S, Goldgar, D, Venne, V, Stephenson, R, Dechet, C, Arun, B, Davis, JW, Yamamura, Y, Gross, L

    المصدر: European urology. 66(3):489-499

    مصطلحات موضوعية: Medicin och hälsovetenskap

  9. 9
    Academic Journal

    Relation: Baker, E. K., Arpone, M., Minh, B., Kraan, C. M., Ling, L., Francis, D., Hunter, M. F., Rogers, C., Field, M. J., Santa Maria, L., Faundes, V., Curotto, B., Morales, P., Trigo, C., Salas, I., Alliende, A. M., Amor, D. J. & Godler, D. E. (2023). Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 191 (2), pp.357-369. https://doi.org/10.1002/ajmg.a.63027.; http://hdl.handle.net/11343/338438

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    Academic Journal

    Relation: pii: 10.1038/s41431-022-01232-5; Francis, D. I., Stark, Z., Scheffer, I. E., Tan, T. Y., Murali, K., Gallacher, L., Amor, D. J., Goel, H., Downie, L., Stutterd, C. A., Krzesinski, E. I., Vasudevan, A., Oertel, R., Petrovic, V., Boys, A., Wei, V., Burgess, T., Dun, K., Oliver, K. L. ,. Wall, M. (2023). Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability. EUROPEAN JOURNAL OF HUMAN GENETICS, 31 (5), pp.521-525. https://doi.org/10.1038/s41431-022-01232-5.; http://hdl.handle.net/11343/335453

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    Academic Journal
  12. 12
    Electronic Resource
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    Electronic Resource
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    Electronic Resource
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    Academic Journal

    المصدر: urn:ISSN:2666-2477 ; Human Genetics and Genomics Advances, 3, 1, 100075

    وصف الملف: application/pdf

  16. 16
    Academic Journal

    Relation: NHMRC/1105008; NHMRC/1172897; pii: 10.1038/s41380-022-01764-8; Kaspi, A., Hildebrand, M. S., Jackson, V. E., Braden, R., van Reyk, O., Howell, T., Debono, S., Lauretta, M., Morison, L., Coleman, M. J., Webster, R., Coman, D., Goel, H., Wallis, M., Dabscheck, G., Downie, L., Baker, E. K., Parry-Fielder, B., Ballard, K. ,. Morgan, A. T. (2022). Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. MOLECULAR PSYCHIATRY, https://doi.org/10.1038/s41380-022-01764-8.; http://hdl.handle.net/11343/316407

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    Academic Journal

    Relation: pii: S1098-3600(22)00897-8; Kayumi, S., Perez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., Kruer, M. C., Kharbanda, M., Amor, D. J., McGillivray, G., Cohen, J. S., Garcia-Minaur, S., van Eyk, C. L., Harper, K., Jolly, L. A., Webber, D. L., Barnett, C. P., Santos-Simarro, F., Pacio-Miguez, M. ,. Corbett, M. A. (2022). Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. GENETICS IN MEDICINE, 24 (11), pp.2351-2366. https://doi.org/10.1016/j.gim.2022.08.006.; http://hdl.handle.net/11343/322233

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    Academic Journal

    Relation: pii: bmjopen-2021-059534; Pollock, A., D'Cruz, K., Scheinberg, A., Botchway, E., Harms, L., Amor, D. J., Anderson, V., Bonyhady, B. & Knight, S. (2022). Family-centred care for children with traumatic brain injury and/or spinal cord injury: a qualitative study of service provider perspectives during the COVID-19 pandemic. BMJ OPEN, 12 (6), https://doi.org/10.1136/bmjopen-2021-059534.; http://hdl.handle.net/11343/316374

  19. 19
    Academic Journal

    Relation: pii: 6646556; Polyakov, A., Amor, D. J., Savulescu, J., Gyngell, C., Georgiou, E. X., Ross, V., Mizrachi, Y. & Rozen, G. (2022). Polygenic risk score for embryo selection-not ready for prime time. HUMAN REPRODUCTION, 37 (10), pp.2229-2236. https://doi.org/10.1093/humrep/deac159.; http://hdl.handle.net/11343/318266

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    Academic Journal

    المؤلفون: Vears, D, Amor, DJ

    Relation: Vears, D. & Amor, D. J. (2022). A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?. PRENATAL DIAGNOSIS, 42 (6), pp.697-704. https://doi.org/10.1002/pd.6097.; http://hdl.handle.net/11343/308112