المؤلفون: O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, BM, Azzarello-Burri, S, Basinger, AA, Bianchini, C, Bird, LM, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Curro, A, Demurger, F, Dowling, JJ, Duban-Bedu, B, Dubourg, C, Eiset, SE, Escobar, LF, Ferrarini, A, Haack, TB, Hashim, M, Heide, S, Helbig, KL, Helbig, I, Heredia, R, Heron, D, Isidor, B, Jonasson, AR, Joset, P, Keren, B, Kok, F, Kroes, HY, Lavillaureix, A, Lu, X, Maas, SM, Maegawa, GHB, Marcelis, CLM, Mark, PR, Masruha, MR, McLaughlin, HM, McWalter, K, Melchinger, EU, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, GP, Ramos, LLP, Rauch, A, Reavey, C, Renieri, A, Riess, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, JC, Telegrafi, A, Thiffault, I, Trauner, DA, van der Linden, H, van Koningsbruggen, S, Villard, L, Vogel, I, Vogt, J, Weber, YG, Wentzensen, IM, Widjaja, E, Zak, J, Baxter, S, Banka, S, Rodan, LH, Mcrae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, Mckay, K, Mckee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Ong, KR, Park, SM, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellaker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME

المصدر: American journal of human genetics. 104(6):1210-1222

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141067079

المؤلفون: Jansen, S, Geuer, S, Pfundt, R, Brough, R, Ghongane, P, Herkert, JC, Marco, EJ, Willemsen, MH, Kleefstra, T, Hannibal, M, Shieh, JT, Lynch, SA, Flinter, F, FitzPatrick, DR, Gardham, A, Bernhard, B, Ragge, N, Newbury-Ecob, R, Bernier, R, Kvarnung, M, Magnusson, EAH, Wessels, MW, van Slegtenhorst, MA, Monaghan, KG, de Vries, P, Veltman, JA, Lord, CJ, Vissers, LELM, de Vries, BBA

المصدر: American journal of human genetics. 100(4):650-658

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:135465810

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, R.J., Game, D., Griffin, S., Hall, M., Johnson, S., Kanigicherla, D., Karet Frankl, F., Kavanagh, D., Kerecuk, L., Maher, E.R., Moochhala, S., Pinney, J., Sayer, J.A., Simms, R., Sinha, S., Srivastava, S., Tam, F.W.K., Turner, A.N., Walsh, S.B., Waters, A., Wilson, P., Wong, E., Taylor, C.M., Nitsch, D., Saleem, M., Bockenhauer, D., Bramham, K., Gale, D.P., 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, C.K., 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, H.T., 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, D.P.J., Hunter, K., Hunter, S., Ijeomah-Orji, M., Inston, N., Jayne, D., Jenfa, G., Jenkins, A., Jones, C.A., 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, A.P., Lai, L.W.M., Lipkin, G., Lovitt, G., Lyons, P., Mabillard, H., Mackintosh, K., Mahdi, K., Maher, E., Marchbank, K.J., Mark, P.B., 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, A.C.M., Oni, L., Osmaston, K., Padmanabhan, N., Parkes, S., Patrick, J., Pattison, J., Paul, R., Percival, R., Perkins, S.J., Persu, A., Petchey, W.G., Pickering, M.C., Plumb, L., Plummer, Z., Popoola, J., Post, F., Power, A., Pratt, G., Pusey, C., Rabara, R., Rabuya, M., Raju, T., Javier, C., Roberts, I.S.D., Roufosse, C., Rumjon, A., Salama, A., Sandford, R., Sandu, K.S., Sarween, N., Sebire, N., Selvaskandan, H., Sharma, A., Sharples, E.J., 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, G.I., West, N., Wheeler, D., Wiles, K., Willcocks, L., Williams, A., Williams, E., Williams, K., Wilson, D.H., Wilson, P.D., Winyard, P., Wood, G., Woodward, E., Woodward, L., Woolf, A., Wright, D.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/211079/1/1-s2.0-S014067362302843X-main.pdf; Wong, K., Pitcher, D., Braddon, F. et al. (294 more authors) (2024) Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. The Lancet, 403 (10433). pp. 1279-1289. ISSN 0140-6736

الاتاحة: https://eprints.whiterose.ac.uk/211079/
https://eprints.whiterose.ac.uk/211079/1/1-s2.0-S014067362302843X-main.pdf

المؤلفون: Wong, K., Pitcher, D., Braddon, F., Downward, L., Steenkamp, R., Masoud, S., Annear, N., Barratt, J., Bingham, C., Coward, R.J., Chrysochou, T., Game, D., Griffin, S., Hall, M., Johnson, S., Kanigicherla, D., Karet Frankl, F., Kavanagh, D., Kerecuk, L., Maher, E.R., Moochhala, S., Pinney, J., Sayer, J.A., Simms, R., Sinha, S., Srivastava, S., Tam, F.W.K., Thomas, K., Turner, A.N., Walsh, S.B., Waters, A., Wilson, P., Wong, E., Sy, K.T.L., Huang, K., Ye, J., Nitsch, D., Saleem, M., Bockenhauer, D., Bramham, K., Gale, D.P., Abat, S., Adalat, S., Agbonmwandolor, J., Ahmad, Z., Alejmi, A., Almasarwah, R., Asgari, E., Ayers, A., Baharani, J., Balasubramaniam, G., Kpodo, F.J.-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, C.K., Chick, K.-J., Chitalia, N., Christian, M., Clark, K., Clayton, C., Clissold, R., Cockerill, H., Coelho, J., Colby, E., Colclough, V., Conway, E., Cook, H.T., Cook, W., Cooper, T., Crosbie, S., Cserep, G., Date, A., Davidson, K., Davies, A., Dhaun, N., Dhaygude, A., Diskin, L., Dixit, A., Doctolero, E.A., 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.L., 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, D.P.J., Hunter, K., Hunter, S., Ijeomah-Orji, M., Inston, N., Jayne, D., Jenfa, G., Jenkins, A., Jones, C.A., Jones, C., Jones, A., Jones, R., Kamesh, L., Frankl, F.K., 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, A.P., Maggie Lai, L.W., Lipkin, G., Lovitt, G., Lyons, P., Mabillard, H., Mackintosh, K., Mahdi, K., Maher, E., Marchbank, K.J., Mark, P.B., 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, A.C.M., Oni, L., Osmaston, K., Padmanabhan, N., Parkes, S., Patrick, J., Pattison, J., Paul, R., Percival, R., Perkins, S.J., Persu, A., Petchey, W.G., Pickering, M.C., Plumb, L., Plummer, Z., Popoola, J., Post, F., Power, A., Pratt, G., Pusey, C., Rabara, R., Rabuya, M., Raju, T., Javier, C., Roberts, I.S.D., Roufosse, C., Rumjon, A., Salama, A., Sandford, R.N., Sandu, K.S., Sarween, N., Sebire, N., Selvaskandan, H., Shah, S., Sharma, A., Sharples, E.J., 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, G.I., West, N., Wheeler, D., Wiles, K., Willcocks, L., Williams, A., Williams, E., Williams, K., Wilson, D.H., Wilson, P.D., Winyard, P., Wood, G., Woodward, E., Woodward, L., Woolf, A., Wright, D.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/216008/1/1-s2.0-S2468024924016991-main.pdf; Wong, K., Pitcher, D., Braddon, F. et al. (299 more authors) (2024) Description and cross-sectional analyses of 25,880 adults and children in the UK National Registry of rare kidney diseases cohort. Kidney International Reports, 9 (7). pp. 2067-2083. ISSN 2468-0249

الاتاحة: https://eprints.whiterose.ac.uk/216008/
https://eprints.whiterose.ac.uk/216008/1/1-s2.0-S2468024924016991-main.pdf
https://doi.org/10.1016/j.ekir.2024.04.062

المؤلفون: Deltas, C, Papagregoriou, G, Louka, SF, Malatras, A, Flinter, F, Gale, DP, Gear, S, Gross, O, Hoefele, J, Lennon, R, Miner, JH, Renieri, A, Savige, J, Turner, AN

المصدر: Genes , 14 (9) , Article 1686. (2023)

مصطلحات موضوعية: Alport syndrome, thin basement membrane nephropathy, focal segmental glomerulosclerosis, glomerular diseases, COL4 nephropathies, genetic modifiers

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10178658/1/Gale_Genetic%20Modifiers%20of%20Mendelian%20Monogenic%20Collagen%20IV%20Nephropathies%20in%20Humans%20and%20Mice_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10178658/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10178658/1/Gale_Genetic%20Modifiers%20of%20Mendelian%20Monogenic%20Collagen%20IV%20Nephropathies%20in%20Humans%20and%20Mice_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10178658/

المؤلفون: Daga, S, Ding, J, Deltas, C, Savige, J, Lipska-Ziętkiewicz, BS, Hoefele, J, Flinter, F, Gale, DP, Aksenova, M, Kai, H, Perin, L, Barua, M, Torra, R, Miner, JH, Massella, L, Ljubanović, DG, Lennon, R, Weinstock, AB, Knebelmann, B, Cerkauskaite, A, Gear, S, Gross, O, Turner, AN, Baldassarri, M, Pinto, AM, Renieri, A

Relation: pii: 10.1038/s41431-022-01075-0; Daga, S., Ding, J., Deltas, C., Savige, J., Lipska-Ziętkiewicz, B. S., Hoefele, J., Flinter, F., Gale, D. P., Aksenova, M., Kai, H., Perin, L., Barua, M., Torra, R., Miner, J. H., Massella, L., Ljubanović, D. G., Lennon, R., Weinstock, A. B., Knebelmann, B. ,. Renieri, A. (2022). The 2019 and 2021 International Workshops on Alport Syndrome. Eur J Hum Genet, 30 (5), pp.507-516. https://doi.org/10.1038/s41431-022-01075-0.; http://hdl.handle.net/11343/306312

الاتاحة: http://hdl.handle.net/11343/306312

المؤلفون: Cuvertino S., Hartill V., Colyer A., Garner T., Nair N., Al-Gazali L., Canham N., Faundes V., Flinter F., Hertecant J., Holder-Espinasse M., Jackson B., Lynch S. A., Nadat F., Narasimhan V. M., Peckham M., Sellers R., Seri M., Montanari F., Southgate L., Squeo G. M., Trembath R., van Heel D., Venuto S., Weisberg D., Stals K., Ellard S., Barton A., Kimber S. J., Sheridan E., Merla G., Stevens A., Johnson C. A., Banka S.

المساهمون: Cuvertino S., Hartill V., Colyer A., Garner T., Nair N., Al-Gazali L., Canham N., Faundes V., Flinter F., Hertecant J., Holder-Espinasse M., Jackson B., Lynch S.A., Nadat F., Narasimhan V.M., Peckham M., Sellers R., Seri M., Montanari F., Southgate L., Squeo G.M., Trembath R., van Heel D., Venuto S., Weisberg D., Stals K., Ellard S., Barton A., Kimber S.J., Sheridan E., Merla G., Stevens A., Johnson C.A., Banka S.

مصطلحات موضوعية: histone 3 lysine 4 methyltransferase, intrinsically disordered region, Kabuki syndrome, KMT2D, multiple congenital anomaly

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31949313; info:eu-repo/semantics/altIdentifier/wos/WOS:000508167800002; volume:22; issue:5; firstpage:867; lastpage:877; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11585/740276; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078007652; https://www.nature.com/articles/s41436-019-0743-3

الاتاحة: http://hdl.handle.net/11585/740276
https://doi.org/10.1038/s41436-019-0743-3
https://www.nature.com/articles/s41436-019-0743-3

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

Relation: https://eprints.ncl.ac.uk/273115; https://eprints.ncl.ac.uk/fulltext.aspx?url=273115/A1C8A8B2-06CC-4C57-9D5D-5E2806D970F9.pdf&pub_id=273115

الاتاحة: https://eprints.ncl.ac.uk/273115

المؤلفون: 100,000 Genomes Project Pilot Investigators, Smedley, D, Smith, KR, Martin, A, Thomas, EA, McDonagh, EM, Cipriani, V, Ellingford, JM, Arno, G, Tucci, A, Vandrovcova, J, Chan, G, Williams, HJ, Ratnaike, T, Wei, W, Stirrups, K, Ibanez, K, Moutsianas, L, Wielscher, M, Need, A, Barnes, MR, Vestito, L, Buchanan, J, Wordsworth, S, Ashford, S, Rehmström, K, Li, E, Fuller, G, Twiss, P, Spasic-Boskovic, O, Halsall, S, Floto, RA, Poole, K, Wagner, A, Mehta, SG, Gurnell, M, Burrows, N, James, R, Penkett, C, Dewhurst, E, Gräf, S, Mapeta, R, Kasanicki, M, Haworth, A, Savage, H, Babcock, M, Reese, MG, Bale, M, Baple, E, Boustred, C, Brittain, H, de Burca, A, Bleda, M, Devereau, A, Halai, D, Haraldsdottir, E, Hyder, Z, Kasperaviciute, D, Patch, C, Polychronopoulos, D, Matchan, A, Sultana, R, Ryten, M, Tavares, ALT, Tregidgo, C, Turnbull, C, Welland, M, Wood, S, Snow, C, Williams, E, Leigh, S, Foulger, RE, Daugherty, LC, Niblock, O, Leong, IUS, Wright, CF, Davies, J, Crichton, C, Welch, J, Woods, K, Abulhoul, L, Aurora, P, Bockenhauer, D, Broomfield, A, Cleary, MA, Lam, T, Dattani, M, Footitt, E, Ganesan, V, Grunewald, S, Compeyrot-Lacassagne, S, Muntoni, F, Pilkington, C, Quinlivan, R, Thapar, N, Wallis, C, Wedderburn, LR, Worth, A, Bueser, T, Compton, C, Deshpande, C, Fassihi, H, Haque, E, Izatt, L, Josifova, D, Mohammed, S, Robert, L, Rose, S, Ruddy, D, Sarkany, R, Say, G, Shaw, AC, Wolejko, A, Habib, B, Burns, G, Hunter, S, Grocock, RJ, Humphray, SJ, Robinson, PN, Haendel, M, Simpson, MA, Banka, S, Clayton-Smith, J, Douzgou, S, Hall, G, Thomas, HB, O'Keefe, RT, Michaelides, M, Moore, AT, Malka, S, Pontikos, N, Browning, AC, Straub, V, Gorman, GS, Horvath, R, Quinton, R, Schaefer, AM, Yu-Wai-Man, P, Turnbull, DM, McFarland, R, Taylor, RW, O'Connor, E, Yip, J, Newland, K, Morris, HR, Polke, J, Wood, NW, Campbell, C, Camps, C, Gibson, K, Koelling, N, Lester, T, Németh, AH, Palles, C, Patel, S, Roy, NBA, Sen, A, Taylor, J, Cacheiro, P, Jacobsen, JO, Seaby, EG, Davison, V, Chitty, L, Douglas, A, Naresh, K, McMullan, D, Ellard, S, Temple, IK, Mumford, AD, Wilson, G, Beales, P, Bitner-Glindzicz, M, Black, G, Bradley, JR, Brennan, P, Burn, J, Chinnery, PF, Elliott, P, Flinter, F, Houlden, H, Irving, M, Newman, W, Rahman, S, Sayer, JA, Taylor, JC, Webster, AR, Wilkie, AOM, Ouwehand, WH, Raymond, FL, Chisholm, J, Hill, S, Bentley, D, Scott, RH, Fowler, T, Rendon, A, Caulfield, M

المصدر: New England Journal of Medicine , 385 (20) pp. 1868-1880. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10138417/1/nejmoa2035790.pdf; https://discovery.ucl.ac.uk/id/eprint/10138417/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10138417/1/nejmoa2035790.pdf
https://discovery.ucl.ac.uk/id/eprint/10138417/

المؤلفون: Savige J., Ariani F., Mari F., Bruttini M., Renieri A., Gross O., Deltas C., Flinter F., Ding J., Gale D. P., Nagel M., Yau M., Shagam L., Torra R., Ars E., Hoefele J., Garosi G., Storey H.

المساهمون: Savige, J., Ariani, F., Mari, F., Bruttini, M., Renieri, A., Gross, O., Deltas, C., Flinter, F., Ding, J., Gale, D. P., Nagel, M., Yau, M., Shagam, L., Torra, R., Ars, E., Hoefele, J., Garosi, G., Storey, H.

مصطلحات موضوعية: Alport syndrome, Collagen IV gene, Next generation sequencing, Pathogenic variants

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/29987460; info:eu-repo/semantics/altIdentifier/wos/WOS:000468850500004; volume:34; issue:7; firstpage:1175; lastpage:1189; numberofpages:15; journal:PEDIATRIC NEPHROLOGY; http://hdl.handle.net/11365/1078702; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85049617992; link.springer.de/link/service/journals/00467/index.htm

الاتاحة: http://hdl.handle.net/11365/1078702
https://doi.org/10.1007/s00467-018-3985-4

المؤلفون: MacKenzie, K.C., Graaf, B.M. (Bianca) de, Syrimis, A., Zhao, Y, Brosens, E. (Erwin), Mancini, G.M.S. (Grazia), Schot, R. (Rachel), Halley, D., Wilke, M. (Martina), Vøllo, A., Flinter, F. (Frances), Green, A., Mansour, S, Pilch, J. (Jacek), Stark, Z, Zamba-Papanicolaou, E., Christophidou-Anastasiadou, V., Hofstra, R.M.W. (Robert), Jongbloed, J.D., Nicolaou, N. (Nayia), Tanteles, G.A., Brooks, A.S. (Alice), Alves, M.M. (Maria)

المصدر: Human Mutation vol. 41 no. 11, pp. 1906-1917

مصطلحات موضوعية: GOSHS, HSCR, KIAA1279, KIFBP, missense variants

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/133815; urn:hdl:1765/133815

الاتاحة: http://repub.eur.nl/pub/133815
https://doi.org/10.1002/humu.24097

المؤلفون: Choufani S., Gibson W. T., Turinsky A. L., Chung B. H. Y., Wang T., Garg K., Vitriolo A., Cohen A. S. A., Cyrus S., Goodman S., Chater-Diehl E., Brzezinski J., Brudno M., Ming L. H., White S. M., Lynch S. A., Clericuzio C., Temple I. K., Flinter F., McConnell V., Cushing T., Bird L. M., Splitt M., Kerr B., Scherer S. W., Machado J., Imagawa E., Okamoto N., Matsumoto N., Testa G., Iascone M., Tenconi R., Caluseriu O., Mendoza-Londono R., Chitayat D., Cytrynbaum C., Tatton-Brown K., Weksberg R.

المساهمون: S. Choufani, W.T. Gibson, A.L. Turinsky, B.H.Y. Chung, T. Wang, K. Garg, A. Vitriolo, A.S.A. Cohen, S. Cyru, S. Goodman, E. Chater-Diehl, J. Brzezinski, M. Brudno, L.H. Ming, S.M. White, S.A. Lynch, C. Clericuzio, I.K. Temple, F. Flinter, V. Mcconnell, T. Cushing, L.M. Bird, M. Splitt, B. Kerr, S.W. Scherer, J. Machado, E. Imagawa, N. Okamoto, N. Matsumoto, G. Testa, M. Iascone, R. Tenconi, O. Caluseriu, R. Mendoza-Londono, D. Chitayat, C. Cytrynbaum, K. Tatton-Brown, R. Weksberg

مصطلحات موضوعية: DNA methylation signature, EED, intellectual disability, overgrowth syndrome, SUZ12, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, Cohort Studie, Congenital Hypothyroidism, Craniofacial Abnormalitie, Enhancer of Zeste Homolog 2 Protein, Female, Hand Deformities, Congenital, Human, Infant, Male, Mosaicism, Mutation, Missense, Polycomb Repressive Complex 2, Reproducibility of Result, Young Adult, DNA Methylation, Settore BIO/11 - Biologia Molecolare, Settore BIO/18 - Genetica

Relation: info:eu-repo/semantics/altIdentifier/pmid/32243864; info:eu-repo/semantics/altIdentifier/wos/WOS:000531096100002; volume:106; issue:5; firstpage:596; lastpage:610; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/801637; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084134777

الاتاحة: http://hdl.handle.net/2434/801637
https://doi.org/10.1016/j.ajhg.2020.03.008

المؤلفون: Cuvertino, S, Hartill, V, Colyer, A, Garner, T, Nair, N, Al-Gazali, L, Canham, N, Faundes, V, Flinter, F, Hertecant, J, Holder-Espinasse, M, Jackson, B, Lynch, SA, Nadat, F, Narasimhan, VM, Peckham, M, Sellers, R, Seri, M, Montanari, F, Southgate, L, Squeo, GM, Trembath, R, van Heel, D, Venuto, S, Weisberg, D, Stals, K, Ellard, S, Barton, A, Kimber, SJ, Sheridan, E, Merla, G, Stevens, A, Johnson, CA, Banka, S

المصدر: Genetics in Medicine

وصف الملف: application/pdf

Relation: https://repositorio.uchile.cl/handle/2250/190859

الاتاحة: https://doi.org/10.1038/s41436-020-0784-7
https://repositorio.uchile.cl/handle/2250/190859

المؤلفون: MacKenzie, KC, de Graaf, BM, Syrimis, A, Zhao, Y, Brosens, E, Mancini, GMS, Schot, R, Halley, D, Wilke, M, Vollo, A, Flinter, F, Green, A, Mansour, S, Pilch, J, Stark, Z, Zamba-Papanicolaou, E, Christophidou-Anastasiadou, V, Hofstra, RMW, Jongbloed, JDH, Nicolaou, N, Tanteles, GA, Brooks, AS, Alves, MM

Relation: MacKenzie, K. C., de Graaf, B. M., Syrimis, A., Zhao, Y., Brosens, E., Mancini, G. M. S., Schot, R., Halley, D., Wilke, M., Vollo, A., Flinter, F., Green, A., Mansour, S., Pilch, J., Stark, Z., Zamba-Papanicolaou, E., Christophidou-Anastasiadou, V., Hofstra, R. M. W., Jongbloed, J. D. H. ,. Alves, M. M. (2020). Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. HUMAN MUTATION, 41 (11), pp.1906-1917. https://doi.org/10.1002/humu.24097.; http://hdl.handle.net/11343/252587

الاتاحة: http://hdl.handle.net/11343/252587

المؤلفون: Choufani, S, Gibson, WT, Turinsky, AL, Chung, BHY, Wang, T, Garg, K, Vitriolo, A, Cohen, ASA, Cyrus, S, Goodman, S, Chater-Diehl, E, Brzezinski, J, Brudno, M, Ming, LH, White, SM, Lynch, SA, Clericuzio, C, Temple, IK, Flinter, F, McConnell, V, Cushing, T, Bird, LM, Splitt, M, Kerr, B, Scherer, SW, Machado, J, Imagawa, E, Okamoto, N, Matsumoto, N, Testa, G, Iascone, M, Tenconi, R, Caluseriu, O, Mendoza-Londono, R, Chitayat, D, Cytrynbaum, C, Tatton-Brown, K, Weksberg, R

Relation: pii: S0002-9297(20)30084-7; Choufani, S., Gibson, W. T., Turinsky, A. L., Chung, B. H. Y., Wang, T., Garg, K., Vitriolo, A., Cohen, A. S. A., Cyrus, S., Goodman, S., Chater-Diehl, E., Brzezinski, J., Brudno, M., Ming, L. H., White, S. M., Lynch, S. A., Clericuzio, C., Temple, I. K., Flinter, F. ,. Weksberg, R. (2020). DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. AMERICAN JOURNAL OF HUMAN GENETICS, 106 (5), pp.596-610. https://doi.org/10.1016/j.ajhg.2020.03.008.; http://hdl.handle.net/11343/251459

الاتاحة: http://hdl.handle.net/11343/251459

المؤلفون: Cuvertino, S, Hartill, V, Colyer, A, Garner, T, Nair, N, Al-Gazali, L, Canham, N, Faundes, V, Flinter, F, Hertecant, J, Holder-Espinasse, M, Jackson, B, Lynch, SA, Nadat, F, Narasimhan, VM, Peckham, M, Sellers, R, Seri, M, Montanari, F, Southgate, L, Squeo, GM, Trembath, R, van Heel, D, Venuto, S, Weisberg, D, Stals, K, Ellard, S, Genomics England Research Consortium, Barton, A, Kimber, SJ, Sheridan, E, Merla, G, Stevens, A, Johnson, CA, Banka, S

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/111581/11/s41436-019-0743-3.pdf; Cuvertino, S; Hartill, V; Colyer, A; Garner, T; Nair, N; Al-Gazali, L; Canham, N; Faundes, V; Flinter, F; Hertecant, J; et al. Cuvertino, S; Hartill, V; Colyer, A; Garner, T; Nair, N; Al-Gazali, L; Canham, N; Faundes, V; Flinter, F; Hertecant, J; Holder-Espinasse, M; Jackson, B; Lynch, SA; Nadat, F; Narasimhan, VM; Peckham, M; Sellers, R; Seri, M; Montanari, F; Southgate, L; Squeo, GM; Trembath, R; van Heel, D; Venuto, S; Weisberg, D; Stals, K; Ellard, S; Genomics England Research Consortium; Barton, A; Kimber, SJ; Sheridan, E; Merla, G; Stevens, A; Johnson, CA; Banka, S (2020) A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genet Med, 22 (5). pp. 867-877. ISSN 1530-0366 https://doi.org/10.1038/s41436-019-0743-3 SGUL Authors: Southgate, Laura

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/111581/
https://openaccess.sgul.ac.uk/id/eprint/111581/11/s41436-019-0743-3.pdf

المؤلفون: Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Nemeth AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR, Fitzgerald TW, Gerety SS, Jones WD, van Kogelenberg M, King DA, Morley KI, Parthiban V, Al-Turki S, Ambridge K, Barrett DM, Bayzetinova T, Clayton S, Coomber EL, Gribble S, Jones P, Krishnappa N, Mason LE, Middleton A, Miller R, Prigmore E, Rajan D, Sifrim A, Tivey AR, Ahmed M, Akawi N, Andrews R, Anjum U, Archer H, Armstrong R, Balasubramanian M, Banerjee R, Barelle D, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan AP, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Brady A, Bragin E, Brewer C, Brueton L, Brunstrom K, Bumpstead SJ, Bunyan DJ, Burn J, Burton J, Canham N, Castle B, Chandler K, Clasper S, Clayton-Smith J, Cole T, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro PM, Dabir T, Davidson R, Davies S, Dean J, Deshpande C, Devlin G, Dixit A, Dominiczak A, Donnelly C, Donnelly D, Douglas A, Duncan A, Eason J, Edkins S, Ellard S, Ellis P, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fryer A, Fu B, Gardiner C, Gaunt L, Ghali N, Gibbons R, Pereira SLG, Goodship J, Goudie D, Gray E, Greene P, Greenhalgh L, Harrison L, Hawkins R, Hellens S, Henderson A, Hobson E, Holden S, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Ingram S, Irving M, Jarvis J, Jenkins L, Johnson D, Jones D, Jones E, Josifova D, Kaemba B, Kazembe S, Kerr B, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Lam W, Lampe A, Langman C, Lees M, Lim D, Lowther G, Lynch SA, Magee A, Maher E, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McMullan DJ, McNerlan S, Mehta S, Metcalfe K, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morris A, Morton J, Mugalaasi H, Murday V, Nevitt L, Newbury-Ecob R, Norman A, O'Shea R, Ogilvie C, Park S, Patel C, Paterson J, Payne S, Phipps J, Pilz DT, Porteous D, Pratt N, Prescott K, Price S, Pridham A, Proctor A, Purnell H, Ragge N, Rankin J, Raymond L, Rice D, Robert L, Roberts E, Roberts G, Roberts J, Roberts P, Ross A, Rosser E, Saggar A, Samant S, Sandford R, Schweiger S, Scott C, Scott R, Selby A, Seller A, Sequeira C, Shannon N, Sharif S, Shaw-Smith C, Shearing E, Shears D, Simonic I, Simpkin D, Singzon R, Skitt Z, Smith A, Smith B, Smith K, Smithson S, Sneddon L, Squires M, Stewart F, Stewart H, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tein M, Temple IK, Thomson J, Tolmie J, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Vasudevan P, Vogt J, Wakeling E, Walker D, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Williams D, Williams N, Woods G, Wragg C, Wright M, Yang F, Yau M, Carter NP, Parker M, Barrett JC

المصدر: American Journal of Human Genetics, 7 November 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/261535; https://eprints.ncl.ac.uk/fulltext.aspx?url=261535/5CC6CD84-D300-4747-8732-1CB46ED4463B.pdf&pub_id=261535

الاتاحة: https://eprints.ncl.ac.uk/261535

المؤلفون: Pearce, C, Goettke, E, Hallowell, N, McCormack, P, Flinter, F, McKevitt, C

Relation: https://ora.ox.ac.uk/objects/uuid:d11ad542-a15f-40f9-8823-54bfbabd273e; https://doi.org/10.1038/s41436-019-0579-x

الاتاحة: https://doi.org/10.1038/s41436-019-0579-x
https://ora.ox.ac.uk/objects/uuid:d11ad542-a15f-40f9-8823-54bfbabd273e