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1Academic Journal
المؤلفون: Hanson, H., Durkie, M., Lalloo, F., Izatt, L., McVeigh, T. P., Cook, J. A., Brewer, C., Drummond, J., Butler, S., Cranston, T., Casey, R., Tan, T., Morganstein, D., Eccles, D. M., Tischkowitz, M., Turnbull, C., Woodward, E. R., Maher, E. R.
مصطلحات موضوعية: endocrinology, genetic counselling, genetic predisposition to disease, genetic testing
Relation: http://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=35260474; J Med Genet. 2022 Mar 8:jmedgenet-2021-108355. doi:10.1136/jmedgenet-2021-108355.; https://rde.dspace-express.com/handle/11287/622404; Journal of medical genetics
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2Academic Journal
المؤلفون: Yang X., Leslie G., Doroszuk A., Schneider S., Allen J., Decker B., Dunning A. M., Redman J., Scarth J., Plaskocinska I., Luccarini C., Shah M., Pooley K., Dorling L., Leei A., Adank M. A., Adlard J., Aittomaki K., Andrulis I. L., Ang P., Barwell J., Bernstein J. L., Bobolis K., Borg A., Blomqvist C., Claes K. B. M., Concannon P., Cuggia A., Culver J. O., Damiola F., De Pauw A., Diez O., Dolinsky J. S., Domchek S. M., Engel C., Evans D. G., Fostira F., Garber J., Golmard L., Goode E. L., Gruber S. B., Hahnen E., Hake C., Heikkinen T., Hurley J. E., Janavicius R., Kleibl Z., Kleiblova P., Konstantopoulou I., Kvist A., Laduca H., Lee A. S. G., Lesueur F., Maher E. R., Mannermaa A., Manoukian S., McFarland R., McKinnon W., Meindl A., Metcalfe K., Taib N. A. M., Moilanen J., Nathanson K. L., Neuhausen S., Ng P. S., Nguyen-Dumont T., Nielsen S. M., Obermair F., Offit K., Olopade O. I., Ottini L., Penkert J., Pylkas K., Radice P., Ramus S. J., Rudaitis V., Side L., Silva-Smith R., Silvestri V., Skytte A. -B., Slavin T., Soukupova J., Tondini C., Trainer A. H., Unzeitig G., Usha L., Van Overeem Hansen T., Whitworth J., Wood M., Yip C. H., Yoon S. -Y., Yussuf A., Zogopoulos G., Goldgar D., Hopper J. L., Chenevix-Trench G., Pharoah P., George S. H. L., Balmana J., Houdayer C., James P., El-Haffaf Z., Ehrencrona H., Janatova M., Peterlongo P., Nevanlinna H., Schmutzler R., Teo S. -H., Robson M., Pal T., Couch F., Weitzel J. N., Elliott A., Southey M., Winqvist R., Easton D. F., Foulkes W. D., Antoniou A. C., Tischkowitz M.
المساهمون: Yang, X., Leslie, G., Doroszuk, A., Schneider, S., Allen, J., Decker, B., Dunning, A. M., Redman, J., Scarth, J., Plaskocinska, I., Luccarini, C., Shah, M., Pooley, K., Dorling, L., Leei, A., Adank, M. A., Adlard, J., Aittomaki, K., Andrulis, I. L., Ang, P., Barwell, J., Bernstein, J. L., Bobolis, K., Borg, A., Blomqvist, C., Claes, K. B. M., Concannon, P., Cuggia, A., Culver, J. O., Damiola, F., De Pauw, A., Diez, O., Dolinsky, J. S., Domchek, S. M., Engel, C., Evans, D. G., Fostira, F., Garber, J., Golmard, L., Goode, E. L., Gruber, S. B., Hahnen, E., Hake, C., Heikkinen, T., Hurley, J. E., Janavicius, R., Kleibl, Z., Kleiblova, P., Konstantopoulou, I., Kvist, A., Laduca, H., Lee, A. S. G., Lesueur, F., Maher, E. R., Mannermaa, A., Manoukian, S., McFarland, R., McKinnon, W., Meindl, A., Metcalfe, K., Taib, N. A. M., Moilanen, J., Nathanson, K. L., Neuhausen, S., Ng, P. S., Nguyen-Dumont, T., Nielsen, S. M., Obermair, F., Offit, K., Olopade, O. I., Ottini, L., Penkert, J., Pylkas, K., Radice, P., Ramus, S. J., Rudaitis, V., Side, L., Silva-Smith, R., Silvestri, V., Skytte, A. -B., Slavin, T., Soukupova, J., Tondini, C., Trainer, A. H., Unzeitig, G., Usha, L., Van Overeem Hansen, T., Whitworth, J., Wood, M., Yip, C. H., Yoon, S. -Y., Yussuf, A., Zogopoulos, G., Goldgar, D., Hopper, J. L., Chenevix-Trench, G., Pharoah, P., George, S. H. L., Balmana, J., Houdayer, C.
مصطلحات موضوعية: Palb2, pathogenic variant, cancer risk
Relation: info:eu-repo/semantics/altIdentifier/pmid/31841383; info:eu-repo/semantics/altIdentifier/wos/WOS:000521313500005; volume:38; issue:7; firstpage:674; lastpage:685; numberofpages:12; journal:JOURNAL OF CLINICAL ONCOLOGY; http://hdl.handle.net/11573/1415471; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85080075709
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3Academic Journal
المؤلفون: Mone, F., Eberhardt, R. Y., Hurles, M. E., Mcmullan, D. J., Maher, E. R., Lord, J., Chitty, L. S., Dempsey, E., Homfray, T., Giordano, J. L., Wapner, R. J., Sun, L., Sparks, T. N., Norton, M. E., Kilby, M. D.
المصدر: Ultrasound in Obstetrics & Gynecology ; volume 58, issue 4, page 509-518 ; ISSN 0960-7692 1469-0705
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4Academic Journal
المؤلفون: Garrett A., Loveday C., King L., Butler S., Robinson R., Horton C., Yussuf A., Choi S., Torr B., Durkie M., Burghel G. J., Drummond J., Berry I., Wallace A., Callaway A., Eccles D., Tischkowitz M., Tatton-Brown K., Snape K., McVeigh T., Izatt L., Woodward E. R., Burnichon N., Gimenez-Roqueplo A. -P., Mazzarotto F., Whiffin N., Ware J., Hanson H., Pesaran T., LaDuca H., Buffet A., Maher E. R., Turnbull C.
المساهمون: Garrett A., Loveday C., King L., Butler S., Robinson R., Horton C., Yussuf A., Choi S., Torr B., Durkie M., Burghel G. J., Drummond J., Berry I., Wallace A., Callaway A., Eccles D., Tischkowitz M., Tatton-Brown K., Snape K., Mcveigh T., Izatt L., Woodward E. R., Burnichon N., Gimenez-Roqueplo A. -P., Mazzarotto F., Whiffin N., Ware J., Hanson H., Pesaran T., Laduca H., Buffet A., Maher E. R., Turnbull C.
مصطلحات موضوعية: Cancer, Germline, SDHB, SDHD, Variant interpretation
Relation: info:eu-repo/semantics/altIdentifier/pmid/34906457; info:eu-repo/semantics/altIdentifier/wos/WOS:000819827500005; volume:24; issue:1; firstpage:41; lastpage:50; numberofpages:10; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11379/551663; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122392416
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5Academic Journal
المؤلفون: Cangul, H. (Hakan), Liao, X.-H. (Xiao-Hui), Schoenmakers, E. (Erik), Kero, J. (Jukka), Barone, S. (Sharon), Srichomkwun, P. (Panudda), Iwayama, H. (Hideyuki), Serra, E. G. (Eva G.), Saglam, H. (Halil), Eren, E. (Erdal), Tarim, O. (Omer), Nicholas, A. K. (Adeline K.), Zvetkova, I. (Ilona), Anderson, C. A. (Carl A.), Frankl, F. E. (Fiona E. Karet), Boelaert, K. (Kristien), Ojaniemi, M. (Marja), Jääskeläinen, J. (Jarmo), Patyra, K. (Konrad), Löf, C. (Christoffer), Williams, E. D. (E. Dillwyn), UK10K Consortium, . (), Soleimani, M. (Manoocher), Barrett, T. (Timothy), Maher, E. R. (Eamonn R.), Chatterjee, V. K. (V. Krishna), Refetoff, S. (Samuel), Schoenmakers, N. (Nadia)
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/eissn/2379-3708; info:eu-repo/semantics/altIdentifier/url/https://insight.jci.org/articles/view/99631/sd/1
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6Academic Journal
المؤلفون: Thompson, A. J., Alwan, Y. M., Ramani, V. A. C., Evans, D. G., Maher, E. R., Woodward, E. R.
المساهمون: Manchester Centre for Health Economics, Division of Population Health, Health Services Research and Primary Care, The University of Manchester, Manchester, UK. Department of Clinical Radiology, Manchester University NHS Foundation Trust, Manchester, UK. Department of Urology, The Christie NHS Foundation Trust, Manchester, UK. Division of Evolution and Genomic Medicine, The University of Manchester, Manchester, UK. Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK. Department of Medical Genetics, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. Division of Evolution and Genomic Medicine, The University of Manchester, Manchester, UK Emma.Woodward@mft.nhs.uk.
Relation: https://dx.doi.org/10.1136/jmedgenet-2021-108215; Thompson AJ, Alwan YM, Ramani VAC, Evans DG, Maher ER, Woodward ER. Cost-effectiveness model of renal cell carcinoma (RCC) surveillance in hereditary leiomyomatosis and renal cell carcinoma (HLRCC). Journal of Medical Genetics. BMJ; 2022. p. jmedgenet-2021-108215.; http://hdl.handle.net/10541/625054; Journal of Medical Genetics
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7Academic Journal
المؤلفون: Alholle, A, Brini, A T, Bauer, J, Gharanei, S, Niada, S, Slater, A, Gentle, D, Maher, E R, Jeys, L, Grimer, R, Sumathi, V P, Latif, F
المصدر: Epigenetics ; volume 10, issue 3, page 213-220 ; ISSN 1559-2294 1559-2308
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8Academic Journal
المؤلفون: Williams, S. T., Chatzikyriakou, P., Carroll, P. V., McGowan, B. M., Velusamy, A., White, G., Obholzer, R., Akker, S., Tufton, N., Casey, R. T., Maher, E. R., Park, S. M., Porteous, M., Dyer, R., Tan, T., Wernig, F., Brady, A. F., Kosicka-Slawinska, M., Whitelaw, B. C., Dorkins, H., Lalloo, F., Brennan, P., Carlow, J., Martin, R., Mitchell, A. L., Harrison, R., Hawkes, L., Newell-Price, J., Kelsall, A., Igbokwe, R., Adlard, J., Schirwani, S., Davidson, R., Morrison, P. J., Chung, T. T., Bowles, C., Izatt, L.
مصطلحات موضوعية: gastrointestinal tumour, paraganglioma, phaeochromocytoma, rare diseases, succinate dehydrogenase
Relation: https://doi.org/10.1111/cen.14594; Clin Endocrinol (Oxf). 2021 Sep 24. doi:10.1111/cen.14594.; https://rde.dspace-express.com/handle/11287/622306; Clinical endocrinology
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9Academic JournalExome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
المؤلفون: Carss, K. J., Hillman, S. C., Parthiban, V., McMullan, D. J., Maher, E. R., Kilby, M. D., Hurles, M. E.
المصدر: Human Molecular Genetics ; volume 23, issue 12, page 3269-3277 ; ISSN 0964-6906 1460-2083
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10Academic Journal
المؤلفون: Hillman, S. C., McMullan, D. J., Hall, G., Togneri, F. S., James, N., Maher, E. J., Meller, C. H., Williams, D., Wapner, R. J., Maher, E. R., Kilby, M. D.
المصدر: Ultrasound in Obstetrics & Gynecology ; volume 41, issue 6, page 610-620 ; ISSN 0960-7692
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11Academic Journal
المؤلفون: Lu, X, Boora, U, Seabra, L, Rabai, E M, Fenton, J, Reiman, A, Nagy, Z, Maher, E R
المصدر: Oncogene ; volume 33, issue 8, page 956-965 ; ISSN 0950-9232 1476-5594
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12Academic Journal
المؤلفون: Hillman, S. C., McMullan, D. J., Silcock, L., Maher, E. R., Kilby, M. D.
المصدر: The Journal of Maternal-Fetal & Neonatal Medicine ; volume 27, issue 7, page 649-657 ; ISSN 1476-7058 1476-4954
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13Academic Journal
المؤلفون: Walsh, D M, Shah, S H, Simpson, M A, Morgan, N V, Khaliq, S, Trembath, R C, Mehdi, S Q, Maher, E R
المصدر: Walsh , D M , Shah , S H , Simpson , M A , Morgan , N V , Khaliq , S , Trembath , R C , Mehdi , S Q & Maher , E R 2012 , ' A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis ' , Scientifica , vol. 2012 , pp. 649090 . https://doi.org/10.6064/2012/649090
الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/a-novel-abca12-mutation-in-two-families-with-congenital-ichthyosis(25554093-5bd4-4bb9-94da-722cad5058f9).html
https://doi.org/10.6064/2012/649090 -
14Academic Journal
المؤلفون: Hillman, S. C., Mcmullan, D. J., Williams, D., Maher, E. R., Kilby, M. D.
المصدر: Ultrasound in Obstetrics & Gynecology ; volume 40, issue 4, page 385-391 ; ISSN 0960-7692 1469-0705
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15Academic Journal
المؤلفون: Hartley, J L, Simpson, M, Tee, L, Brown, R M, Kirkham, S, Pasha, S, Trembath, R C, Gissen, P, Maher, E R, Kelly, D A, Morgan, N V
مصطلحات موضوعية: Clinical hepatology
وصف الملف: text/html
Relation: http://gut.bmj.com/cgi/content/short/60/Suppl_2/A5-a; http://dx.doi.org/10.1136/gutjnl-2011-300857a.10
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16Academic Journal
المؤلفون: Morris, M. R., Ricketts, C., Gentle, D., Abdulrahman, M., Clarke, N., Brown, M., Kishida, T., Yao, M., Latif, F., Maher, E. R.
المصدر: Morris , M R , Ricketts , C , Gentle , D , Abdulrahman , M , Clarke , N , Brown , M , Kishida , T , Yao , M , Latif , F & Maher , E R 2010 , ' Identification of candidate tumour suppressor genes frequently methylated in renal cell carcinoma ' , Oncogene , vol. 29 , no. 14 , pp. 2104-2117 . https://doi.org/10.1038/onc.2009.493
مصطلحات موضوعية: Epigenetics, Methylation, Renal cell carcinoma
وصف الملف: application/octet-stream
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17Academic Journal
المؤلفون: Wakeling, E L, Amero, S Abu, Alders, M, Bliek, J, Forsythe, E, Kumar, S, Lim, D H, MacDonald, F, Mackay, D J, Maher, E R, Moore, G E, Poole, R L, Price, S M, Tangeraas, T, Turner, C L S, Van Haelst, M M, Willoughby, C, Temple, I K, Cobben, J M
مصطلحات موضوعية: Original articles
وصف الملف: text/html
Relation: http://jmg.bmj.com/cgi/content/short/jmg.2010.079111v1; http://dx.doi.org/10.1136/jmg.2010.079111
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18Academic Journal
المؤلفون: Evans, D G R, Susnerwala, I, Dawson, J, Woodward, E, Maher, E R, Lalloo, F
مصطلحات موضوعية: Short reports
وصف الملف: text/html
Relation: http://jmg.bmj.com/cgi/content/short/jmg.2009.075176v1; http://dx.doi.org/10.1136/jmg.2009.075176
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19Academic Journal
المؤلفون: Hillman, S. C., Pretlove, S., Coomarasamy, A., Mcmullan, D. J., Davison, E. V., Maher, E. R., Kilby, M. D.
المصدر: Ultrasound in Obstetrics & Gynecology ; volume 37, issue 1, page 6-14 ; ISSN 0960-7692 1469-0705
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20Academic Journal
المؤلفون: Hill, V K, Underhill-Day, N, Krex, D, Robel, K, Sangan, C B, Summersgill, H R, Morris, M, Gentle, D, Chalmers, A D, Maher, E R, Latif, F
المصدر: Oncogene ; volume 30, issue 8, page 978-989 ; ISSN 0950-9232 1476-5594