المؤلفون: Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Masoud S, Annear N, Barratt J, Bingham C, Coward RJ, Chrysochou T, Game D, Griffin S, Hall M, Johnson S, Kanigicherla D, Karet Frankl F, Kavanagh D, Kerecuk L, Maher ER, Moochhala S, Pinney J, Sayer JA, Simms R, Sinha S, Srivastava S, Tam FWK, Thomas K, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Sy KTL, Huang K, Ye J, Nitsch D, Saleem M, Bockenhauer D, Bramham K, Gale DP, Abat S, Adalat S, Agbonmwandolor J, Ahmad Z, Alejmi A, Almasarwah R, Asgari E, Ayers A, Baharani J, Balasubramaniam G, Kpodo FJ-B, Bansal T, Barratt A, Bates M, Bayne N, Bendle J, Benyon S, Bergmann C, Bhandari S, Boddana P, Bond S, Branson A, Brearey S, Brocklebank V, Budwal S, Byrne C, Cairns H, Camilleri B, Campbell G, Capell A, Carmody M, Carson M, Cathcart T, Catley C, Cesar K, Chan M, Chea H, Chess J, Cheung CK, Chick K-J, Chitalia N, Christian M, Clark K, Clayton C, Clissold R, Cockerill H, Coelho J, Colby E, Colclough V, Conway E, Cook HT, Cook W, Cooper T, Crosbie S, Cserep G, Date A, Davidson K, Davies A, Dhaun N, Dhaygude A, Diskin L, Dixit A, Doctolero EA, Dorey S, Downard L, Drayson M, Dreyer G, Dutt T, Etuk K, Evans D, Finch J, Flinter F, Fotheringham J, Francis L, Gallagher H, Garcia EL, Gavrila M, Gear S, Geddes C, Gilchrist M, Gittus M, Goggolidou P, Goldsmith C, Gooden P, Goodlife A, Goodwin P, Grammatikopoulos T, Gray B, Griffith M, Gumus S, Gupta S, Hamilton P, Harper L, Harris T, Haskell L, Hayward S, Hegde S, Hendry B, Hewins S, Hewitson N, Hillman K, Hiremath M, Howson A, Htet Z, Huish S, Hull R, Humphries A, Hunt DPJ, Hunter K, Hunter S, Ijeomah-Orji M, Inston N, Jayne D, Jenfa G, Jenkins A, Jones CA, Jones C, Jones A, Jones R, Kamesh L, Frankl FK, Karim M, Kaur A, Kearley K, Khwaja A, King G, Kislowska E, Klata E, Kokocinska M, Lambie M, Lawless L, Ledson T, Lennon R, Levine AP, Maggie Lai LW, Lipkin G, Lovitt G, Lyons P, Mabillard H, Mackintosh K, Mahdi K, Maher E, Marchbank KJ, Mark PB, Masunda B, Mavani Z, Mayfair J, McAdoo S, Mckinnell J, Melhem N, Meyrick S, Morgan P, Morgan A, Muhammad F, Murray S, Novobritskaya K, Ong AC, Oni L, Osmaston K, Padmanabhan N, Parkes S, Patrick J, Pattison J, Paul R, Percival R, Perkins SJ, Persu A, Petchey WG, Pickering MC, Plumb L, Plummer Z, Popoola J, Post F, Power A, Pratt G, Pusey C, Rabara R, Rabuya M, Raju T, Javier C, Roberts IS, Roufosse C, Rumjon A, Salama A, Sandford RN, Sandu KS, Sarween N, Sebire N, Selvaskandan H, Shah S, Sharma A, Sharples EJ, Sheerin N, Shetty H, Shroff R, Sinha M, Smith K, Smith L, Stott I, Stroud K, Swift P, Szklarzewicz J, Tam F, Tan K, Taylor R, Tischkowitz M, Tse Y, Turnbull A, Tyerman K, Usher M, Venkat-Raman G, Walker A, Watt A, Webster P, Wechalekar A, Welsh GI, West N, Wheeler D, Wiles K, Willcocks L, Williams A, Williams E, Williams K, Wilson DH, Wilson PD, Winyard P, Wood G, Woodward E, Woodward L, Woolf A, Wright D

المصدر: Kidney International Reports, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/298986; https://eprints.ncl.ac.uk/fulltext.aspx?url=298986/B19C71D2-0CCE-4ED2-9632-CCADEE5EF5B1.pdf&pub_id=298986

الاتاحة: https://eprints.ncl.ac.uk/298986

المؤلفون: Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Annear N, Barratt J, Bingham C, Chrysochou C, Coward RJ, Game D, Griffin S, Hall M, Johnson S, Kanigicherla D, Karet Frankl F, Kavanagh D, Kerecuk L, Maher ER, Moochhala S, Pinney J, Sayer JA, Simms R, Sinha S, Srivastava S, Tam FWK, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Taylor CM, Nitsch D, Saleem M, Bockenhauer D, Bramham K, Gale DP, Abat S, Adalat S, Agbonmwandolor J, Ahmad Z, Alejmi A, Almasarwah R, Asgari E, Ayers A, Baharani J, Balasubramaniam G, Kpodo F, Bansal T, Barratt A, Bates M, Bayne N, Bendle J, Benyon S, Bergmann C, Bhandari S, Boddana P, Bond S, Branson A, Brearey S, Brocklebank V, Budwal S, Byrne C, Cairns H, Camilleri B, Campbell G, Capell A, Carmody M, Carson M, Cathcart T, Catley C, Cesar K, Chan M, Chea H, Chess J, Cheung CK, Chick K-J, Chitalia N, Christian M, Chrysochou T, Clark K, Clayton C, Clissold R, Cockerill H, Coelho J, Colby E, Colclough V, Conway E, Cook HT, Cook W, Cooper T, Crosbie S, Cserep G, Date A, Davidson K, Davies A, Dhaun N, Dhaygude A, Diskin L, Dixit A, Doctolero E, Dorey S, Downard L, Drayson M, Dreyer G, Dutt T, Etuk K, Evans D, Finch J, Flinter F, Fotheringham J, Francis L, Gallagher H, Garcia E, Gavrila M, Gear S, Geddes C, Gilchrist M, Gittus M, Goggolidou P, Goldsmith C, Gooden P, Goodlife A, Goodwin P, Grammatikopoulos T, Gray B, Griffith M, Gumus S, Gupta S, Hamilton P, Harper L, Harris T, Haskell L, Hayward S, Hegde S, Hendry B, Hewins S, Hewitson N, Hillman K, Hiremath M, Howson A, Htet Z, Huish S, Hull R, Humphries A, Hunt DPJ, Hunter K, Hunter S, Ijeomah-Orji M, Inston N, Jayne D, Jenfa G, Jenkins A, Jones CA, Jones C, Jones A, Jones R, Kamesh L, Karim M, Kaur A, Kearley K, Khwaja A, King G, Kislowska E, Klata E, Kokocinska M, Lambie M, Lawless L, Ledson T, Lennon R, Levine AP, Lai LWM, Lipkin G, Lovitt G, Lyons P, Mabillard H, Mackintosh K, Mahdi K, Maher E, Marchbank KJ, Mark PB, Masoud S, Masunda B, Mavani Z, Mayfair J, McAdoo S, Mckinnell J, Melhem N, Meyrick S, Morgan P, Morgan A, Muhammad F, Murray S, Novobritskaya K, Ong AC, Oni L, Osmaston K, Padmanabhan N, Parkes S, Patrick J, Pattison J, Paul R, Percival R, Perkins SJ, Persu A, Petchey WG, Pickering MC, Plumb L, Plummer Z, Popoola J, Post F, Power A, Pratt G, Pusey C, Rabara R, Rabuya M, Raju T, Javier C, Roberts ISD, Roufosse C, Rumjon A, Salama A, Sandford R, Sandu KS, Sarween N, Sebire N, Selvaskandan H, Sharma A, Sharples EJ, Sheerin N, Shetty H, Shroff R, Sinha M, Smith K, Smith L, Stott I, Stroud K, Swift P, Szklarzewicz J, Tam F, Tan K, Taylor R, Tischkowitz M, Thomas K, Tse Y, Turnbull A, Tyerman K, Usher M, Venkat-Raman G, Walker A, Watt A, Webster P, Wechalekar A, Welsh GI, West N, Wheeler D, Wiles K, Willcocks L, Williams A, Williams E, Williams K, Wilson DH, Wilson PD, Winyard P, Wood G, Woodward E, Woodward L, Woolf A, Wright D

المصدر: The Lancet, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/297646; https://eprints.ncl.ac.uk/fulltext.aspx?url=297646/2E480D37-0357-4AE4-8210-D326CC0E0813.pdf&pub_id=297646

الاتاحة: https://eprints.ncl.ac.uk/297646

المؤلفون: Wong, K, Pitcher, D, Braddon, F, Downward, L, Steenkamp, R, Annear, N, Barratt, J, Bingham, C, Chrysochou, C, Coward, RJ, Game, D, Griffin, S, Hall, M, Johnson, S, Kanigicherla, D, Karet Frankl, F, Kavanagh, D, Kerecuk, L, Maher, ER, Moochhala, S, Pinney, J, Sayer, JA, Simms, R, Sinha, S, Srivastava, S, Tam, FWK, Turner, AN, Walsh, SB, Waters, A, Wilson, P, Wong, E, Taylor, CM, Nitsch, D, Saleem, M, Bockenhauer, D, Bramham, K, Gale, DP, RaDaR consortium

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/116362/1/1-s2.0-S014067362302843X-main.pdf; https://openaccess.sgul.ac.uk/id/eprint/116362/6/1-s2.0-S014067362302843X-mmc1.pdf; Wong, K; Pitcher, D; Braddon, F; Downward, L; Steenkamp, R; Annear, N; Barratt, J; Bingham, C; Chrysochou, C; Coward, RJ; et al. Wong, K; Pitcher, D; Braddon, F; Downward, L; Steenkamp, R; Annear, N; Barratt, J; Bingham, C; Chrysochou, C; Coward, RJ; Game, D; Griffin, S; Hall, M; Johnson, S; Kanigicherla, D; Karet Frankl, F; Kavanagh, D; Kerecuk, L; Maher, ER; Moochhala, S; Pinney, J; Sayer, JA; Simms, R; Sinha, S; Srivastava, S; Tam, FWK; Turner, AN; Walsh, SB; Waters, A; Wilson, P; Wong, E; Taylor, CM; Nitsch, D; Saleem, M; Bockenhauer, D; Bramham, K; Gale, DP; RaDaR consortium (2024) Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. Lancet, 403 (10433). pp. 1279-1289. ISSN 1474-547X https://doi.org/10.1016/S0140-6736(23)02843-X SGUL Authors: Annear, Nicholas Marshall Poon

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/116362/
https://doi.org/10.1016/S0140-6736(23)02843-X

المؤلفون: Wong, K, Pitcher, D, Braddon, F, Downward, L, Steenkamp, R, Masoud, S, Annear, N, Barratt, J, Bingham, C, Coward, RJ, Chrysochou, T, Game, D, Griffin, S, Hall, M, Johnson, S, Kanigicherla, D, Karet Frankl, F, Kavanagh, D, Kerecuk, L, Maher, ER, Moochhala, S, Pinney, J, Sayer, JA, Simms, R, Sinha, S, Srivastava, S, Tam, FWK, Thomas, K, Turner, AN, Walsh, SB, Waters, A, Wilson, P, Wong, E, Sy, KTL, Huang, K, Ye, J, Nitsch, D, Saleem, M, Bockenhauer, D, Bramham, K, Gale, DP, RaDaR consortium

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/116717/1/1-s2.0-S2468024924016991-main.pdf; Wong, K; Pitcher, D; Braddon, F; Downward, L; Steenkamp, R; Masoud, S; Annear, N; Barratt, J; Bingham, C; Coward, RJ; et al. Wong, K; Pitcher, D; Braddon, F; Downward, L; Steenkamp, R; Masoud, S; Annear, N; Barratt, J; Bingham, C; Coward, RJ; Chrysochou, T; Game, D; Griffin, S; Hall, M; Johnson, S; Kanigicherla, D; Karet Frankl, F; Kavanagh, D; Kerecuk, L; Maher, ER; Moochhala, S; Pinney, J; Sayer, JA; Simms, R; Sinha, S; Srivastava, S; Tam, FWK; Thomas, K; Turner, AN; Walsh, SB; Waters, A; Wilson, P; Wong, E; Sy, KTL; Huang, K; Ye, J; Nitsch, D; Saleem, M; Bockenhauer, D; Bramham, K; Gale, DP; RaDaR consortium (2024) Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort. Kidney Int Rep, 9 (7). pp. 2067-2083. ISSN 2468-0249 https://doi.org/10.1016/j.ekir.2024.04.062 SGUL Authors: Annear, Nicholas Marshall Poon

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/116717/
https://doi.org/10.1016/j.ekir.2024.04.062

المؤلفون: Astuti, D, Ricketts, CJ, Chowdhury, R, McDonough, MA, Gentle, D, Kirby, G, Schlisio, S, Kenchappa, RS, Carter, BD, Kaelin, WG, Ratcliffe, PJ, Schofield, CJ, Latif, F, Maher, ER

المصدر: Endocrine-related cancer. 18(1):73-83

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:127652594

المؤلفون: Burn, J, Gerdes, AM, Macrae, F, Mecklin, JP, Moeslein, G, Olschwang, S, Eccles, D, Evans, DG, Maher, ER, Bertario, L, Bisgaard, ML, Dunlop, MG, Ho, JWC, Hodgson, SV, Lindblom, A, Lubinski, J, Morrison, PJ, Murday, V, Ramesar, R, Side, L, Scott, RJ, Thomas, HJW, Vasen, HF, Barker, G, Crawford, G, Elliott, F, Movahedi, M, Pylvanainen, K, Wijnen, JT, Fodde, R, Lynch, HT, Mathers, JC, Bishop, DT

المصدر: Lancet (London, England). 378(9809):2081-2087

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:123715700

المؤلفون: Dunwell, TL, Hesson, LB, Pavlova, T, Zabarovska, V, Kashuba, V, Catchpoole, D, Chiaramonte, R, Brini, AT, Griffiths, M, Maher, ER, Zabarovsky, E, Latif, F

المصدر: Epigenetics. 4(3):185-193

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:118785485

المؤلفون: Cullinane, AR, Straatman-Iwanowska, A, Seo, JK, Ko, JS, Song, KS, Gizewska, M, Gruszfeld, D, Gliwicz, D, Tuysuz, B, Erdemir, G, Sougrat, R, Wakabayashi, Y, Hinds, R, Barnicoat, A, Mandel, H, Chitayat, D, Fischler, B, Garcia-Cazorla, A, Knisely, AS, Kelly, DA, Maher, ER, Gissen, P

المصدر: Human mutation. 30(2):E330-E337

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:120988997

المؤلفون: Cooper, WN, Dickinson, RE, Dallol, A, Grigorieva, EV, Pavlova, T, Hesson, LB, Bieche, I, Broggini, M, Maher, ER, Zabarovsky, ER, Clark, GJ, Latif, F

المصدر: Oncogene. 27(12):1805-1811

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:116737582

المؤلفون: Burn, J, Bishop, DT, Mecklin, JP, Macrae, F, Moslein, G, Olschwang, S, Bisgaard, ML, Ramesar, R, Eccles, D, Maher, ER, Bertario, L, Jarvinen, HJ, Lindblom, A, Evans, DG, Lubinski, J, Morrison, PJ, Ho, JWC, Vasen, HFA, Side, L, Thomas, HJW, Scott, RJ, Dunlop, M, Barker, G, Elliott, F, Jass, JR, Fodde, R, Lynch, HT, Mathers, JC

المصدر: The New England journal of medicine. 359(24):2567-2578

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:117915896

المؤلفون: Astuti, D, da Silva, NF, Dallol, A, Gentle, D, Martinsson, T, Kogner, P, Grundy, R, Kishida, T, Yao, M, Latif, F, Maher, ER

المصدر: British journal of cancer. 90(2):515-521

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1956923

المؤلفون: Astuti, D, Morris, M, Krona, C, Abel, F, Gentle, D, Martinsson, T, Kogner, P, Neumann, HPH, Voutilainen, R, Eng, C, Rustin, P, Latif, F, Maher, ER

المصدر: British journal of cancer. 91(10):1835-1841

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1942714

المؤلفون: Chen, JD, Lui, WO, Vos, MD, Clark, GJ, Takahashi, M, Schoumans, J, Khoo, SK, Petillo, D, Lavery, T, Sugimura, J, Astuti, D, Zhang, C, Kagawa, S, Maher, ER, Larsson, C, Alberts, AS, Kanayama, HO, Teh, BT

المصدر: Cancer cell. 4(5):405-413

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:14392966

المؤلفون: Maher ER, Adlard J, Barwell J, Brady AF, Brennan P, Cook J, Crawford GS, Dabir T, Davidson R, Dyer R, Harrison R, Forde C, Halliday D, Hanson H, Hay E, Higgs J, Jones M, Lalloo F, Miedzybrodzka Z, Ong KR, Pelz F, Ruddy D, Snape K, Whitworth J, Sandford RN

المصدر: British Journal of Cancer, 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/280610; https://eprints.ncl.ac.uk/fulltext.aspx?url=280610/B96FB682-A44B-40CF-ABBE-5E0E0173F140.pdf&pub_id=280610

الاتاحة: https://eprints.ncl.ac.uk/280610

المؤلفون: Reid, KM, Spaull, R, Salian, S, Barwick, K, Meyer, E, Zhen, J, Hirata, H, Sheipouri, D, Benkerroum, H, Gorman, KM, Papandreou, A, Simpson, MA, Hirano, Y, Farabella, I, Topf, M, Grozeva, D, Carss, K, Smith, M, Pall, H, Lunt, P, De Gressi, S, Kamsteeg, EJ, Haack, TB, Carr, L, Guerreiro, R, Bras, J, Maher, ER, Scott, RH, Vandenberg, RJ, Raymond, FL, Chong, WK, Sudhakar, S, Mankad, K, Reith, ME, Campeau, PM, Harvey, RJ, Kurian, MA

المصدر: Movement Disorders (2022) (In press).

مصطلحات موضوعية: MED27, MPPE1, SLC6A7, dystonia, status dystonicus

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10153087/1/Movement%20Disorders%20-%202022%20-%20Reid%20-%20MED27%20%20SLC6A7%20%20and%20MPPE1%20Variants%20in%20a%20Complex%20Neurodevelopmental%20Disorder%20with%20Severe.pdf; https://discovery.ucl.ac.uk/id/eprint/10153087/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10153087/1/Movement%20Disorders%20-%202022%20-%20Reid%20-%20MED27%20%20SLC6A7%20%20and%20MPPE1%20Variants%20in%20a%20Complex%20Neurodevelopmental%20Disorder%20with%20Severe.pdf
https://discovery.ucl.ac.uk/id/eprint/10153087/

المؤلفون: Baptiste, C, Mellis, R, Aggarwal, V, Lord, J, Eberhardt, R, Kilby, MD, Maher, ER, Wapner, R, Giordano, J, Chitty, LS

المصدر: Prenatal Diagnosis , 42 (6) pp. 736-743. (2022)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10147064/1/Prenatal%20Diagnosis%20-%202022%20-%20Baptiste%20-%20Fetal%20central%20nervous%20system%20anomalies%20%20When%20should%20we%20offer%20exome%20sequencing.pdf; https://discovery.ucl.ac.uk/id/eprint/10147064/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10147064/1/Prenatal%20Diagnosis%20-%202022%20-%20Baptiste%20-%20Fetal%20central%20nervous%20system%20anomalies%20%20When%20should%20we%20offer%20exome%20sequencing.pdf
https://discovery.ucl.ac.uk/id/eprint/10147064/

المؤلفون: Mellis, R, Eberhardt, RY, Hamilton, SJ, McMullan, DJ, Kilby, MD, Maher, ER, Hurles, ME, Giordano, JL, Aggarwal, V, Goldstein, DB, Wapner, RJ, Chitty, LS

المصدر: BJOG: An International Journal of Obstetrics & Gynaecology , 129 (1) pp. 52-61. (2022)

مصطلحات موضوعية: Fetal diagnosis and therapy, Genetics, Perinatal diagnosis-invasive, Perinatal diagnosis-ultrasound.

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10133874/1/Mellis_BJOG%20-%202021%20-%20Mellis%20-%20Fetal%20exome%20sequencing%20for%20isolated%20increased%20nuchal%20translucency%20%20should%20we%20be%20doing%20it.pdf; https://discovery.ucl.ac.uk/id/eprint/10133874/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10133874/1/Mellis_BJOG%20-%202021%20-%20Mellis%20-%20Fetal%20exome%20sequencing%20for%20isolated%20increased%20nuchal%20translucency%20%20should%20we%20be%20doing%20it.pdf
https://discovery.ucl.ac.uk/id/eprint/10133874/

المؤلفون: Maher, ER, Adlard, J, Barwell, J, Brady, AF, Brennan, P, Cook, J, Crawford, GS, Dabir, T, Davidson, R, Dyer, R, Harrison, R, Forde, C, Halliday, D, Hanson, H, Hay, E, Higgs, J, Jones, M, Lalloo, F, Miedzybrodzka, Z, Ong, KR, Pelz, F, Ruddy, D, Snape, K, Whitworth, J, Sandford, RN

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://openaccess.sgul.ac.uk/id/eprint/114907/1/s41416-022-01724-7.pdf; https://openaccess.sgul.ac.uk/id/eprint/114907/6/41416_2022_1724_MOESM1_ESM.docx; https://openaccess.sgul.ac.uk/id/eprint/114907/8/41416_2022_1724_MOESM2_ESM.pdf; Maher, ER; Adlard, J; Barwell, J; Brady, AF; Brennan, P; Cook, J; Crawford, GS; Dabir, T; Davidson, R; Dyer, R; et al. Maher, ER; Adlard, J; Barwell, J; Brady, AF; Brennan, P; Cook, J; Crawford, GS; Dabir, T; Davidson, R; Dyer, R; Harrison, R; Forde, C; Halliday, D; Hanson, H; Hay, E; Higgs, J; Jones, M; Lalloo, F; Miedzybrodzka, Z; Ong, KR; Pelz, F; Ruddy, D; Snape, K; Whitworth, J; Sandford, RN (2022) Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service. Br J Cancer, 126 (9). pp. 1339-1345. ISSN 1532-1827 https://doi.org/10.1038/s41416-022-01724-7 SGUL Authors: Snape, Katie Mairwen Greenwood

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/114907/
https://openaccess.sgul.ac.uk/id/eprint/114907/1/s41416-022-01724-7.pdf
https://openaccess.sgul.ac.uk/id/eprint/114907/6/41416_2022_1724_MOESM1_ESM.docx
https://openaccess.sgul.ac.uk/id/eprint/114907/8/41416_2022_1724_MOESM2_ESM.pdf
https://doi.org/10.1038/s41416-022-01724-7

المؤلفون: Andreou, A, Yngvadottir, B, Bassaganyas, L, Clarke, G, Martin, E, Whitworth, J, Cornish, AJ, Genomics England Research Consortium, Houlston, RS, Rich, P, Egan, C, Hodgson, SV, Warren, AY, Snape, K, Maher, ER

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://openaccess.sgul.ac.uk/id/eprint/114242/6/ddac066.pdf; https://openaccess.sgul.ac.uk/id/eprint/114242/11/eloc_suppl_informationt_hmg_revised_ddac066.docx; https://openaccess.sgul.ac.uk/id/eprint/114242/1/ddac066.pdf; Andreou, A; Yngvadottir, B; Bassaganyas, L; Clarke, G; Martin, E; Whitworth, J; Cornish, AJ; Genomics England Research Consortium; Houlston, RS; Rich, P; et al. Andreou, A; Yngvadottir, B; Bassaganyas, L; Clarke, G; Martin, E; Whitworth, J; Cornish, AJ; Genomics England Research Consortium; Houlston, RS; Rich, P; Egan, C; Hodgson, SV; Warren, AY; Snape, K; Maher, ER (2022) Elongin C (ELOC/TCEB1) associated von Hippel-Lindau disease. Hum Mol Genet, 31 (16). pp. 2728-2737. ISSN 1460-2083 https://doi.org/10.1093/hmg/ddac066 SGUL Authors: Hodgson, Shirley Victoria

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/114242/
https://openaccess.sgul.ac.uk/id/eprint/114242/6/ddac066.pdf
https://openaccess.sgul.ac.uk/id/eprint/114242/11/eloc_suppl_informationt_hmg_revised_ddac066.docx
https://openaccess.sgul.ac.uk/id/eprint/114242/1/ddac066.pdf
https://doi.org/10.1093/hmg/ddac066

المؤلفون: Garrett, A, Loveday, C, King, L, Butler, S, Robinson, R, Horton, C, Yussuf, A, Choi, S, Torr, B, Durkie, M, Burghel, GJ, Drummond, J, Berry, I, Wallace, A, Callaway, A, Eccles, D, Tischkowitz, M, Tatton-Brown, K, Snape, K, McVeigh, T, Izatt, L, Woodward, ER, Burnichon, N, Gimenez-Roqueplo, A-P, Mazzarotto, F, Whiffin, N, Ware, J, Hanson, H, Pesaran, T, LaDuca, H, Buffet, A, Maher, ER, Turnbull, C, Cancer Variant Interpretation Group UK (CanVIG-UK)

وصف الملف: application/pdf; application/vnd.ms-excel

Relation: https://openaccess.sgul.ac.uk/id/eprint/113968/1/1-s2.0-S1098360021011187-main.pdf; https://openaccess.sgul.ac.uk/id/eprint/113968/7/1-s2.0-S1098360021011187-mmc1.xlsx; Garrett, A; Loveday, C; King, L; Butler, S; Robinson, R; Horton, C; Yussuf, A; Choi, S; Torr, B; Durkie, M; et al. Garrett, A; Loveday, C; King, L; Butler, S; Robinson, R; Horton, C; Yussuf, A; Choi, S; Torr, B; Durkie, M; Burghel, GJ; Drummond, J; Berry, I; Wallace, A; Callaway, A; Eccles, D; Tischkowitz, M; Tatton-Brown, K; Snape, K; McVeigh, T; Izatt, L; Woodward, ER; Burnichon, N; Gimenez-Roqueplo, A-P; Mazzarotto, F; Whiffin, N; Ware, J; Hanson, H; Pesaran, T; LaDuca, H; Buffet, A; Maher, ER; Turnbull, C; Cancer Variant Interpretation Group UK (CanVIG-UK) (2022) Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. Genet Med, 24 (1). pp. 41-50. ISSN 1530-0366 https://doi.org/10.1016/j.gim.2021.08.004 SGUL Authors: Snape, Katie Mairwen Greenwood

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/113968/
https://openaccess.sgul.ac.uk/id/eprint/113968/1/1-s2.0-S1098360021011187-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/113968/7/1-s2.0-S1098360021011187-mmc1.xlsx
https://doi.org/10.1016/j.gim.2021.08.004