المؤلفون: Jezkova, Jana, Shaw, Sophie, Taverner, Nicola V., Williams, Hywel J.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/152857/1/humu.24466.pdfTest; Jezkova, Jana, Shaw, Sophie, Taverner, Nicola V. https://orca.cardiff.ac.uk/view/cardiffauthors/A1582092V.htmlTest and Williams, Hywel J. https://orca.cardiff.ac.uk/view/cardiffauthors/A069945P.htmlTest orcid:0000-0001-7758-0312 orcid:0000-0001-7758-0312 2022. Rapid genome sequencing for pediatrics. Human Mutation: Variation, Informatics and Disease 43 (11) , pp. 1507-1518. 10.1002/humu.24466 https://doi.org/10.1002/humu.24466Test file https://orca.cardiff.ac.uk/id/eprint/152857/1/humu.24466.pdfTest

الإتاحة: https://doi.org/10.1002/humu.24466Test
https://orca.cardiff.ac.uk/id/eprint/152857Test/
https://orca.cardiff.ac.uk/id/eprint/152857/1/humu.24466.pdfTest

المؤلفون: McGlacken-Byrne, Sinéad M., Le Quesne Stabej, Polona, Del Valle, Ignacio, Ocaka, Louise, Gagunashvili, Andrey, Crespo, Berta, Moreno, Nadjeda, James, Chela, Bacchelli, Chiara, Dattani, Mehul T., Williams, Hywel J., Kelberman, Dan, Achermann, John C., Conway, Gerard S.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/144091/1Test/WILLIAMS,%20HYWEL%20-%20ZSWIM7%20is%20associated%20with%20human%20female%20meiosis%20and%20familial%20primary%20ovarian%20insufficiency.pdf; McGlacken-Byrne, Sinéad M., Le Quesne Stabej, Polona, Del Valle, Ignacio, Ocaka, Louise, Gagunashvili, Andrey, Crespo, Berta, Moreno, Nadjeda, James, Chela, Bacchelli, Chiara, Dattani, Mehul T., Williams, Hywel J. https://orca.cardiff.ac.uk/view/cardiffauthors/A069945P.htmlTest orcid:0000-0001-7758-0312 orcid:0000-0001-7758-0312, Kelberman, Dan, Achermann, John C. and Conway, Gerard S. 2022. ZSWIM7 Is associated with human female meiosis and familial primary ovarian insufficiency. Journal of Clinical Endocrinology and Metabolism 107 (1) , e254-e263. 10.1210/clinem/dgab597 https://doi.org/10.1210/clinem%2Fdgab597Test file https://orca.cardiff.ac.uk/id/eprint/144091/1Test/WILLIAMS,%20HYWEL%20-%20ZSWIM7%20is%20associated%20with%20human%20female%20meiosis%20and%20familial%20primary%20ovarian%20insufficiency.pdf

الإتاحة: https://doi.org/10.1210/clinem/dgab597Test
https://orca.cardiff.ac.uk/id/eprint/144091Test/
https://orca.cardiff.ac.uk/id/eprint/144091/1Test/WILLIAMS,%20HYWEL%20-%20ZSWIM7%20is%20associated%20with%20human%20female%20meiosis%20and%20familial%20primary%20ovarian%20insufficiency.pdf

المؤلفون: 100,000 Genomes Project Pilot Investigators, Smedley, Damian, Smith, Katherine R, Martin, Antonio, Thomas, Ellen A, McDonagh, Ellen M, Cipriani, Valentina, Ellingford, Jamie M, Arno, Gavin, Tucci, Arianna, Vandrovcova, Jana, Chan, Georgia, Williams, Hywel J, Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Ibanez, Kristina, Moutsianas, Loukas, Wielscher, Matthias, Need, Anna, Barnes, Michael R, Vestito, Letizia, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Rehmström, Karola, Li, Emily, Fuller, Gavin, Twiss, Philip, Spasic-Boskovic, Olivera, Halsall, Sally, Floto, R Andres, Poole, Kenneth, Wagner, Annette, Mehta, Sarju G, Gurnell, Mark, Burrows, Nigel, James, Roger, Penkett, Christopher, Dewhurst, Eleanor, Gräf, Stefan, Mapeta, Rutendo, Kasanicki, Mary, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Reese, Martin G, Bale, Mark, Baple, Emma, Boustred, Christopher, Brittain, Helen, de Burca, Anna, Bleda, Marta, Devereau, Andrew, Halai, Dina, Haraldsdottir, Eik, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Polychronopoulos, Dimitris, Matchan, Angela, Sultana, Razvan, Ryten, Mina, Tavares, Ana LT, Tregidgo, Carolyn, Turnbull, Clare, Welland, Matthew, Wood, Suzanne, Snow, Catherine, Williams, Eleanor, Leigh, Sarah, Foulger, Rebecca E, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone US, Wright, Caroline F, Davies, Jim, Crichton, Charles, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Bockenhauer, Detlef, Broomfield, Alexander, Cleary, Maureen A, Lam, Tanya, Dattani, Mehul, Footitt, Emma, Ganesan, Vijeya, Grunewald, Stephanie, Compeyrot-Lacassagne, Sandrine, Muntoni, Francesco, Pilkington, Clarissa, Quinlivan, Rosaline, Thapar, Nikhil, Wallis, Colin, Wedderburn, Lucy R, Worth, Austen, Bueser, Teofila, Compton, Cecilia, Deshpande, Charu, Fassihi, Hiva, Haque, Eshika, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Robert, Leema, Rose, Sarah, Ruddy, Deborah, Sarkany, Robert, Say, Genevieve, Shaw, Adam C, Wolejko, Agata, Habib, Bishoy, Burns, Gavin, Hunter, Sarah, Grocock, Russell J, Humphray, Sean J, Robinson, Peter N, Haendel, Melissa, Simpson, Michael A, Banka, Siddharth, Clayton-Smith, Jill, Douzgou, Sofia, Hall, Georgina, Thomas, Huw B, O'Keefe, Raymond T, Michaelides, Michel, Moore, Anthony T, Malka, Sam, Pontikos, Nikolas, Browning, Andrew C, Straub, Volker, Gorman, Gráinne S, Horvath, Rita, Quinton, Richard, Schaefer, Andrew M, Yu-Wai-Man, Patrick, Turnbull, Doug M, McFarland, Robert, Taylor, Robert W, O'Connor, Emer, Yip, Janice, Newland, Katrina, Morris, Huw R, Polke, James, Wood, Nicholas W, Campbell, Carolyn, Camps, Carme, Gibson, Kate, Koelling, Nils, Lester, Tracy, Németh, Andrea H, Palles, Claire, Patel, Smita, Roy, Noemi BA, Sen, Arjune, Taylor, John, Cacheiro, Pilar, Jacobsen, Julius O, Seaby, Eleanor G, Davison, Val, Chitty, Lyn, Douglas, Angela, Naresh, Kikkeri, McMullan, Dom, Ellard, Sian, Temple, I Karen, Mumford, Andrew D, Wilson, Gill, Beales, Phil, Bitner-Glindzicz, Maria, Black, Graeme, Bradley, John R, Brennan, Paul, Burn, John, Chinnery, Patrick F, Elliott, Perry, Flinter, Frances, Houlden, Henry, Irving, Melita, Newman, William, Rahman, Shamima, Sayer, John A, Taylor, Jenny C, Webster, Andrew R, Wilkie, Andrew OM, Ouwehand, Willem H, Raymond, F Lucy, Chisholm, John, Hill, Sue, Bentley, David, Scott, Richard H, Fowler, Tom, Rendon, Augusto, Caulfield, Mark

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/367485Test; https://doi.org/10.17863/CAM.108059Test

الإتاحة: https://doi.org/10.17863/CAM.108059Test
https://www.repository.cam.ac.uk/handle/1810/367485Test

المؤلفون: Whittaker, Danielle E., Oleari, Roberto, Gregory, Louise C., Le Quesne Stabej, Polona, Williams, Hywel J., Torpiano, John G., Formosa, Nancy, Cachia, Mario J., Field, Daniel, Lettieri, Antonella, Ocaka, Louise A., Paganoni, Alyssa J.J., Rajabali, Sakina H., Riegman, Kimberley L.H., De Martini, Lisa B., Chaya, Taro, Robinson, Iain C., Furukawa, Takahisa, Cariboni, Anna, Basson, M. Albert, Dattani, Mehul T.

المصدر: Whittaker , D E , Oleari , R , Gregory , L C , Le Quesne Stabej , P , Williams , H J , Torpiano , J G , Formosa , N , Cachia , M J , Field , D , Lettieri , A , Ocaka , L A , Paganoni , A J J , Rajabali , S H , Riegman , K L H , De Martini , L B , Chaya , T , Robinson , I C , Furukawa , T , Cariboni , A , Basson , M A & Dattani , ....

الإتاحة: https://doi.org/10.1172/JCI141587Test
https://kclpure.kcl.ac.uk/portal/en/publications/76ef4251-e2d3-4b1b-85d0-8dd9619f5c37Test
https://www.jci.org/articles/view/141587Test
http://www.scopus.com/inward/record.url?scp=85122454479&partnerID=8YFLogxKTest

المؤلفون: Hong, Ying, Keylock, Annette, Jensen, Barbara, Jacques, Thomas S., Ogunbiyi, Olumide, Omoyinmi, Ebun, Saunders, Dawn, Mallick, Andrew A., Tooley, Madeleine, Newbury-Ecob, Ruth, Rankin, Julia, Williams, Hywel J., Ganesan, Vijeya, Brogan, Paul A., Eleftheriou, Despina

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/142890/1/e448.full.pdfTest; Hong, Ying, Keylock, Annette, Jensen, Barbara, Jacques, Thomas S., Ogunbiyi, Olumide, Omoyinmi, Ebun, Saunders, Dawn, Mallick, Andrew A., Tooley, Madeleine, Newbury-Ecob, Ruth, Rankin, Julia, Williams, Hywel J. https://orca.cardiff.ac.uk/view/cardiffauthors/A069945P.htmlTest orcid:0000-0001-7758-0312 orcid:0000-0001-7758-0312, Ganesan, Vijeya, Brogan, Paul A. and Eleftheriou, Despina 2020. Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene. Neurology Genetics 6 (4) , e448. 10.1212/NXG.0000000000000448 https://doi.org/10.1212/NXG.0000000000000448Test file https://orca.cardiff.ac.uk/id/eprint/142890/1/e448.full.pdfTest

الإتاحة: https://doi.org/10.1212/NXG.0000000000000448Test
https://orca.cardiff.ac.uk/id/eprint/142890Test/
https://orca.cardiff.ac.uk/id/eprint/142890/1/e448.full.pdfTest

المؤلفون: Gregory, Louise C., Ferreira, Carolina B., Young-Baird, Sara K., Williams, Hywel J., Harakalova, Magdalena, van Haaften, Gijs, Rahman, Sofia A., Gaston-Massuet, Carles, Kelberman, Daniel, GOSgene, Qasim, Waseem, Camper, Sally A., Dever, Thomas E., Shah, Pratik, Robinson, Iain C.A.F., Dattani, Mehul T.

المساهمون: Genetica, Cancer, Child Health

مصطلحات موضوعية: EIF2S3, Glucose dysregulation, Hypoglycaemia, Hypopituitarism, Protein synthesis, Translation initiation, Protein Biosynthesis, Humans, Hypopituitarism/diagnosis, Child, Preschool, Infant, Gene Knockdown Techniques, Brain/diagnostic imaging, Genes, X-Linked, In Situ Hybridization, Glucose/metabolism, Cell Line, Eukaryotic Initiation Factor-2/chemistry, Magnetic Resonance Imaging, Phenotype, Pedigree, Polymorphism, Single Nucleotide, Mutation, Amino Acid Substitution, Apoptosis, General Biochemistry,Genetics and Molecular Biology, Journal Article

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/392040Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/392040Test

المؤلفون: Haworth, S., Shapland, C.Y., Hayward, C., Prins, B.P., Felix, J.F., Medina-Gomez, C., Rivadeneira, F., Wang, C., Ahluwalia, T.S., Vrijheid, M., Guxens, M., Sunyer, J., Tachmazidou, I., Walter, K., Iotchkova, V., Jackson, A., Cleal, L., Huffmann, J., Min, J.L., Sass, L., Timmers, P.R.H.J., Turki, S.A., Anderson, C.A., Anney, R., Antony, D., Artigas, M.S., Ayub, M., Bala, S., Barrett, J.C., Barroso, I., Beales, P., Bentham, J., Bhattacharya, S., Birney, E., Blackwood, D., Bobrow, M., Bochukova, E., Bolton, P.F., Bounds, R., Boustred, C., Breen, G., Calissano, M., Carss, K., Charlton, R., Chatterjee, K., Chen, L., Ciampi, A., Cirak, S., Clapham, P., Clement, G., Coates, G., Cocca, M., Collier, D.A., Cosgrove, C., Cox, T., Craddock, N., Crooks, L., Curran, S., Curtis, D., Daly, A., Danecek, P., Day, I.N.M., Day-Williams, A., Dominiczak, A., Down, T., Du, Y., Dunham, I., Durbin, R., Edkins, S., Ekong, R., Ellis, P., Evans, D.M., Farooqi, I.S., Fitzpatrick, D.R., Flicek, P., Floyd, J., Foley, A.R., Franklin, C.S., Futema, M., Gallagher, L., Gaunt, T.R., Geihs, M., Geschwind, D., Greenwood, C.M.T., Griffin, H., Grozeva, D., Guo, X., Gurling, H., Hart, D., Hendricks, A.E., Holmans, P., Howie, B., Huang, J., Huang, L., Hubbard, T., Humphries, S.E., Hurles, M.E., Hysi, P., Jackson, D.K., Jamshidi, Y., Joyce, C., Karczewski, K.J., Kaye, J., Keane, T., Kemp, J.P., Kennedy, K., Kent, A., Keogh, J., Khawaja, F., van Kogelenberg, M., Kolb-Kokocinski, A., Lachance, G., Langford, C., Lawson, D., Lee, I., Lek, M., Li, R., Li, Y., Liang, J., Lin, H., Liu, R., Lonnqvist, J., Lopes, L.R., Lopes, M., MacArthur, D.G., Mangino, M., Marchini, J., Marenne, G., Maslen, J., Mathieson, I., McCarthy, S., McGuffin, P., McIntosh, A.M., McKechanie, A.G., McQuillin, A., Memari, Y., Metrustry, S., Migone, N., Mitchison, H.M., Moayyeri, A., Morris, A., Morris, J., Muddyman, D., Muntoni, F., Northstone, K., O?Donovan, M.C., O?Rahilly, S., Onoufriadis, A., Oualkacha, K., Owen, M.J., Palotie, A., Panoutsopoulou, K., Parker, V., Parr, J.R., Paternoster, L., Paunio, T., Payne, F., Payne, S.J., Perry, J.R.B., Pietilainen, O., Plagnol, V., Pollitt, R.C., Porteous, D.J., Povey, S., Quail, M.A., Quaye, L., Raymond, F.L., Rehnstrom, K., Richards, J.B., Ridout, C.K., Ring, S., Ritchie, G.R.S., Roberts, N., Robinson, R.L., Savage, D.B., Scambler, P., Schiffels, S., Schmidts, M., Schoenmakers, N., Scott, R.H., Semple, R.K., Serra, E., Sharp, S.I., Shaw, A., Shihab, H.A., Shin, S.-Y., Skuse, D., Small, K.S., Smee, C., Smith, B.H., Soranzo, N., Southam, L., Spasic-Boskovic, O., Spector, T.D., St Clair, D., Stalker, J., Stevens, E., Sun, J., Surdulescu, G., Suvisaari, J., Syrris, P., Taylor, R., Tian, J., Tobin, M.D., Valdes, A.M., Vandersteen, A.M., Vijayarangakannan, P., Visscher, P.M., Wain, L.V., Walters, J.T.R., Wang, G., Wang, J., Wang, Y., Ward, K., Wheeler, E., Whyte, T., Williams, Hywel J., Williamson, K.A., Wilson, C., Wilson, S.G., Wong, K., Xu, C.J., Yang, J., Zhang, F., Zhang, P., Zheng, H.-F., Davey Smith, G., Fisher, S.E., Wilson, J.F., Cole, T.J., Fernandez-Orth, D., B?nnelykke, K., Bisgaard, H., Pennell, C.E., Jaddoe, V.W.V., Dedoussis, G., Timpson, N., Zeggini, E., Vitart, V., St Pourcain, B.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/128295/1/s41467-018-07863-x.pdfTest; Haworth, S., Shapland, C.Y., Hayward, C., Prins, B.P., Felix, J.F., Medina-Gomez, C., Rivadeneira, F., Wang, C., Ahluwalia, T.S., Vrijheid, M., Guxens, M., Sunyer, J., Tachmazidou, I., Walter, K., Iotchkova, V., Jackson, A., Cleal, L., Huffmann, J., Min, J.L., Sass, L., Timmers, P.R.H.J., Turki, S.A., Anderson, C.A., Anney, R., Antony, D., Artigas, M.S., Ayub, M., Bala, S., Barrett, J.C., Barroso, I., Beales, P., Bentham, J., Bhattacharya, S., Birney, E., Blackwood, D., Bobrow, M., Bochukova, E., Bolton, P.F., Bounds, R., Boustred, C., Breen, G., Calissano, M., Carss, K., Charlton, R., Chatterjee, K., Chen, L., Ciampi, A., Cirak, S., Clapham, P., Clement, G., Coates, G., Cocca, M., Collier, D.A., Cosgrove, C., Cox, T., Craddock, N., Crooks, L., Curran, S., Curtis, D., Daly, A., Danecek, P., Day, I.N.M., Day-Williams, A., Dominiczak, A., Down, T., Du, Y., Dunham, I., Durbin, R., Edkins, S., Ekong, R., Ellis, P., Evans, D.M., Farooqi, I.S., Fitzpatrick, D.R., Flicek, P., Floyd, J., Foley, A.R., Franklin, C.S., Futema, M., Gallagher, L., Gaunt, T.R., Geihs, M., Geschwind, D., Greenwood, C.M.T., Griffin, H., Grozeva, D., Guo, X., Guo, X., Gurling, H., Hart, D., Hendricks, A.E., Holmans, P., Howie, B., Huang, J., Huang, L., Hubbard, T., Humphries, S.E., Hurles, M.E., Hysi, P., Jackson, D.K., Jamshidi, Y., Joyce, C., Karczewski, K.J., Kaye, J., Keane, T., Kemp, J.P., Kennedy, K., Kent, A., Keogh, J., Khawaja, F., van Kogelenberg, M., Kolb-Kokocinski, A., Lachance, G., Langford, C., Lawson, D., Lee, I., Lek, M., Li, R., Li, Y., Liang, J., Lin, H., Liu, R., Lonnqvist, J., Lopes, L.R., Lopes, M., MacArthur, D.G., Mangino, M., Marchini, J., Marenne, G., Maslen, J., Mathieson, I., McCarthy, S., McGuffin, P., McIntosh, A.M., McKechanie, A.G., McQuillin, A., Memari, Y., Metrustry, S., Migone, N., Mitchison, H.M., Moayyeri, A., Morris, A., Morris, J., Muddyman, D., Muntoni, F., Northstone, K., O?Donovan, M.C., O?Rahilly, S., Onoufriadis, A., Oualkacha, K., Owen, M.J., Palotie, A., Panoutsopoulou, K., Parker, V., Parr, J.R., Paternoster, L., Paunio, T., Payne, F., Payne, S.J., Perry, J.R.B., Pietilainen, O., Plagnol, V., Pollitt, R.C., Porteous, D.J., Povey, S., Quail, M.A., Quaye, L., Raymond, F.L., Rehnstrom, K., Richards, J.B., Ridout, C.K., Ring, S., Ritchie, G.R.S., Roberts, N., Robinson, R.L., Savage, D.B., Scambler, P., Schiffels, S., Schmidts, M., Schoenmakers, N., Scott, R.H., Semple, R.K., Serra, E., Sharp, S.I., Shaw, A., Shihab, H.A., Shin, S.-Y., Skuse, D., Small, K.S., Smee, C., Smith, B.H., Soranzo, N., Southam, L., Spasic-Boskovic, O., Spector, T.D., St Clair, D., Stalker, J., Stevens, E., Sun, J., Surdulescu, G., Suvisaari, J., Syrris, P., Taylor, R., Tian, J., Tobin, M.D., Valdes, A.M., Vandersteen, A.M., Vijayarangakannan, P., Visscher, P.M., Wain, L.V., Walters, J.T.R., Wang, G., Wang, J., Wang, Y., Ward, K., Wheeler, E., Whyte, T., Williams, Hywel J. https://orca.cardiff.ac.uk/view/cardiffauthors/A069945P.htmlTest orcid:0000-0001-7758-0312 orcid:0000-0001-7758-0312, Williamson, K.A., Wilson, C., Wilson, S.G., Wong, K., Xu, C.J., Yang, J., Zhang, F., Zhang, P., Zheng, H.-F., Davey Smith, G., Fisher, S.E., Wilson, J.F., Cole, T.J., Fernandez-Orth, D., B?nnelykke, K., Bisgaard, H., Pennell, C.E., Jaddoe, V.W.V., Dedoussis, G., Timpson, N., Zeggini, E., Vitart, V. and St Pourcain, B. 2019. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications 10 , 357. 10.1038/s41467-018-07863-x https://doi.org/10.1038/s41467-018-07863-xTest file https://orca.cardiff.ac.uk/id/eprint/128295/1/s41467-018-07863-x.pdfTest

الإتاحة: https://doi.org/10.1038/s41467-018-07863-xTest
https://orca.cardiff.ac.uk/id/eprint/128295Test/
https://orca.cardiff.ac.uk/id/eprint/128295/1/s41467-018-07863-x.pdfTest

المؤلفون: Yang, Yongjie, van der Klaauw, Agatha A., Zhu, Liangru, Cacciottolo, Tessa M., He, Yanlin, Stadler, Lukas K. J., Wang, Chunmei, Xu, Pingwen, Saito, Kenji, Hinton, Antentor, Yan, Xiaofeng, Keogh, Julia M., Henning, Elana, Banton, Matthew C., Hendricks, Audrey E., Bochukova, Elena G., Mistry, Vanisha, Lawler, Katherine L., Liao, Lan, Xu, Jianming, O'Rahilly, Stephen, Tong, Qingchun, Barroso, Ines, O'Malley, Bert W., Farooqi, I. Sadaf, Xu, Yong, Balasubramanian, Senduran, Clapham, Peter, Coates, Guy, Cox, Tony, Daly, Allan, Danecek, Petr, Du, Yuanping, Durbin, Richard, Edkins, Sarah, Ellis, Peter, Flicek, Paul, Guo, Xiaosen, Guo, Xueqin, Huang, Liren, Jackson, David K., Joyce, Chris, Keane, Thomas, Kolb-Kokocinski, Anja, Langford, Cordelia, Li, Yingrui, Liang, Jieqin, Lin, Hong, Liu, Ryan, Maslen, John, McCarthy, Shane, Muddyman, Dawn, Quail, Michael A., Stalker, Jim, Sun, Jianping, Tian, Jing, Wang, Guangbiao, Wang, Jun, Wang, Yu, Wong, Kim, Zhang, Pingbo, Birney, Ewan, Boustred, Chris, Brion, Marie-Jo, Chen, Lu, Clement, Gail, Smith, George Davey, Day, Ian N. M., Day-Williams, Aaron, Down, Thomas, Dunham, Ian, Evans, David M., Fatemifar, Ghazaleh, Gaunt, Tom R., Geihs, Matthias, Greenwood, Celia M. T., Hart, Deborah, Howie, Bryan, Huang, Jie, Hubbard, Tim, Hysi, Pirro, Iotchkova, Valentina, Jamshidi, Yalda, Kemp, John P., Lachance, Genevieve, Lawson, Daniel, Lek, Monkol, Lopes, Margarida, MacArthur, Daniel G., Marchini, Jonathan, Massimo, Mangino, Mathieson, Iain, Memari, Yasin, Metrustry, Sarah, Min, Josine L., Moayyeri, Alireza, Northstone, Kate, Panoutsopoulou, Kalliope, Paternoster, Lavinia, Perry, John R. B., Quaye, Lydia, Richards, J. Brent, Ring, Susan, Ritchie, Graham R. S., Schiffels, Stephan, Shihab, Hashem A., Shin, So-Youn, Small, Kerrin S., Artigas, Maria Soler, Soranzo, Nicole, Southam, Lorraine, Spector, Timothy D., St Pourcain, Beate, Surdulescu, Gabriela, Tachmazidou, Ioanna, Timpson, Nicholas J., Tobin, Martin D., Valdes, Ana M., Visscher, Peter M., Wain, Louise V., Walter, Klaudia, Ward, Kirsten, Wilson, Scott G., Yang, Jian, Zeggini, Eleftheria, Zhang, Feng, Zheng, Hou-Feng, Anney, Richard, Ayub, Muhammad, Barrett, Jeffrey C., Blackwood, Douglas, Bolton, Patrick F., Breen, Gerome, Collier, David A., Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Gallagher, Louise, Geschwind, Daniel, Gurling, Hugh, Holmans, Peter, Lee, Irene, Lonnqvist, Jouko, McGuffin, Peter, McIntosh, Andrew M., McKechanie, Andrew G., McQuillin, Andrew, Morris, James, O'Donovan, Michael C., Owen, Michael J., Palotie, Aarno, Parr, Jeremy R., Paunio, Tiina, Pietilainen, Olli, Rehnstrom, Karola, Sharp, Sally I., Skuse, David, St Clair, David, Suvisaari, Jaana, Walters, James T. R., Williams, Hywel J., Bochukova, Elena, Bounds, Rebecca, Dominiczak, Anna, Keogh, Julia, Marenne, Gaelle, Morris, Andrew, Porteous, David J., Smith, Blair H., Wheeler, Eleanor, Al Turki, Saeed, Anderson, Carl A., Antony, Dinu, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo, Calissano, Mattia, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Fitzpatrick, David R., Floyd, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Grozeva, Detelina, Humphries, Steve E., Hurles, Matthew E., Mitchison, Hannah M., Muntoni, Francesco, Onoufriadis, Alexandros, Parker, Victoria, Payne, Felicity, Plagnol, Vincent, Raymond, F. Lucy, Roberts, Nicola, Savage, David B., Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert K., Serra, Eva, Spasic-Boskovic, Olivera, Stevens, Elizabeth, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Williamson, Kathleen A., Wilson, Crispian, Whyte, Tamieka, Ciampi, Antonio, Li, Rui, Oualkacha, Karim, Xu, ChangJiang, Bobrow, Martin, Griffin, Heather, Kaye, Jane, Kennedy, Karen, Kent, Alastair, Smee, Carol, Charlton, Ruth, Ekong, Rosemary, Khawaja, Farrah, Lopes, Luis R., Migone, Nicola, Payne, Stewart J., Pollitt, Rebecca C., Povey, Sue, Ridout, Cheryl K., Robinson, Rachel L., Scott, Richard H., Shaw, Adam, Syrris, Petros, Taylor, Rohan, Vandersteen, Anthony M., Amuzu, Antoinette, Casas, Juan Pablo, Chambers, John C., Cocca, Massimiliano, Dedoussis, George, Gambaro, Giovanni, Gasparini, Paolo, Isaacs, Aaron, Johnson, Jon, Kleber, Marcus E., Kooner, Jaspal S., Langenberg, Claudia, Luan, Jian'an, Malerba, Giovanni, Marz, Winfried, Matchan, Angela, Morris, Richard, Nordestgaard, Børge G., Benn, Marianne, Scott, Robert A., Toniolo, Daniela, Traglia, Michela, Tybjaerg-Hansen, Anne, van Duijn, Cornelia M., van Leeuwen, Elisabeth M., Varbo, Anette, Whincup, Peter, Zaza, Gianluigi, Zhang, Weihua

المصدر: Yang , Y , van der Klaauw , A A , Zhu , L , Cacciottolo , T M , He , Y , Stadler , L K J , Wang , C , Xu , P , Saito , K , Hinton , A , Yan , X , Keogh , J M , Henning , E , Banton , M C , Hendricks , A E , Bochukova , E G , Mistry , V , Lawler , K L , Liao , L , Xu , J , O'Rahilly , S , Tong , Q , ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41467-019-08737-6Test
https://curis.ku.dk/portal/da/publications/steroid-receptor-coactivator1-modulates-the-function-of-pomc-neurons-and-energy-homeostasisTest(c9787c62-2da4-431c-859a-aacf8aef2461).html
https://curis.ku.dk/ws/files/237701932/Steroid_receptor_coactivator_1_modulates_thefunction_of_Pomc_neurons_and_energy_homeostasis.pdfTest

المؤلفون: Carreno, Gabriela, Gonzalez-Meljem, Jose Mario, Haston, Scott, Guiho, Romain, Cooper, Julie E., Manshaei, Saba, Jani, Nital, Holsken, Annett, Pettorini, Benedetta, Beynon, Robert J., Simpson, Deborah M., Fraser, Helen C., Hong, Ying, Hallang, Shirleen, Stone, Thomas J., Virasami, Alex, Donson, Andrew M., Jones, David, Aquilina, Kristian, Spoudeas, Helen, Joshi, Abhijit R., Grundy, Richard G., Storer, Lisa C. D., Korbonits, M., Hilton, David A., Tossell, Kyoko, Thavaraj, Selvam, Ungless, Mark A., Gil, Jesus, Buslei, Rolf, Hankinson, Todd, Hargrave, Darren, Goding, Colin, Andoniadou, Cynthia L., Brogan, Paul, Jacques, Thomas S., Williams, Hywel J., Martinez-Barbera, Juan Pedro, Apps, John R.

مصطلحات موضوعية: Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Clinical Neurology

العلاقة: https://nottingham-repository.worktribe.com/output/919694Test; Acta Neuropathologica; Volume 135; Issue 5; Pagination 757-777; https://nottingham-repository.worktribe.com/file/919694/1/10.1007_s00401-018-1830-2.pdfTest

الإتاحة: https://doi.org/10.1007/s00401-018-1830-2Test
https://nottingham-repository.worktribe.com/output/919694Test

المؤلفون: Apps, John R., Carreno, Gabriela, Gonzalez-Meljem, Jose Mario, Haston, Scott, Guiho, Romain, Cooper, Julie E., Manshaei, Saba, Jani, Nital, Holsken, Annett, Pettorini, Benedetta, Beynon, Robert J., Simpson, Deborah M., Fraser, Helen C., Hong, Ying, Hallang, Shirleen, Stone, Thomas J., Virasami, Alex, Donson, Andrew M., Jones, David, Aquilina, Kristian, Spoudeas, Helen, Joshi, Abhijit R., Grundy, Richard, Storer, Lisa C. D., Korbonits, Marta, Hilton, David A., Tossell, Kyoko, Thavaraj, Selvam, Ungless, Mark A., Gil, Jesus, Buslei, Rolf, Hankinson, Todd, Hargrave, Darren, Goding, Colin, Andoniadou, Cynthia L., Brogan, Paul, Jacques, Thomas S., Williams, Hywel J., Martinez-Barbera, Juan Pedro

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/128285/1/Apps2018_Article_TumourCompartmentTranscriptomi.pdfTest; Apps, John R., Carreno, Gabriela, Gonzalez-Meljem, Jose Mario, Haston, Scott, Guiho, Romain, Cooper, Julie E., Manshaei, Saba, Jani, Nital, Holsken, Annett, Pettorini, Benedetta, Beynon, Robert J., Simpson, Deborah M., Fraser, Helen C., Hong, Ying, Hallang, Shirleen, Stone, Thomas J., Virasami, Alex, Donson, Andrew M., Jones, David, Aquilina, Kristian, Spoudeas, Helen, Joshi, Abhijit R., Grundy, Richard, Storer, Lisa C. D., Korbonits, Marta, Hilton, David A., Tossell, Kyoko, Thavaraj, Selvam, Ungless, Mark A., Gil, Jesus, Buslei, Rolf, Hankinson, Todd, Hargrave, Darren, Goding, Colin, Andoniadou, Cynthia L., Brogan, Paul, Jacques, Thomas S., Williams, Hywel J. https://orca.cardiff.ac.uk/view/cardiffauthors/A069945P.htmlTest orcid:0000-0001-7758-0312 orcid:0000-0001-7758-0312 and Martinez-Barbera, Juan Pedro 2018. Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target. Acta Neuropathologica 135 , pp. 757-777. 10.1007/s00401-018-1830-2 https://doi.org/10.1007/s00401-018-1830-2Test file https://orca.cardiff.ac.uk/id/eprint/128285/1/Apps2018_Article_TumourCompartmentTranscriptomi.pdfTest

الإتاحة: https://doi.org/10.1007/s00401-018-1830-2Test
https://orca.cardiff.ac.uk/id/eprint/128285Test/
https://orca.cardiff.ac.uk/id/eprint/128285/1/Apps2018_Article_TumourCompartmentTranscriptomi.pdfTest