المؤلفون: Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stulpnagel C, Smedley D, Pochiero F, Mari F, Ramesh V, Capra V, Mancardi M, Keren B, Mignot C, Lulli M, Parks K, Griffin H, Brugger M, Nigro V, Hirata Y, Koichihara R, Peterlin B, Maki R, Nitta Y, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez JF, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki M, Torella A, Tohyama J, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R

المصدر: American Journal of Human Genetics, 3 August 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/293028; https://eprints.ncl.ac.uk/fulltext.aspx?url=293028/72092B1E-63AA-46F3-8128-4AA7055D67D9.pdf&pub_id=293028

الاتاحة: https://eprints.ncl.ac.uk/293028

المؤلفون: Jackson, A, Lin, SJ, Jones, EA, Chandler, KE, Orr, D, Moss, C, Haider, Z, Ryan, G, Holden, S, Harrison, M, Burrows, N, Jones, WD, Loveless, M, Petree, C, Stewart, H, Low, K, Donnelly, D, Lovell, S, Drosou, K, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, CR, Brittain, H, Brown, MA, Caulfield, MJ, Chan, GC, Giess, A, Griffin, JN, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lakey, A, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, McEntagart, M, Minneci, F, Mitchell, J, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O‘Donovan, P, Odhams, CA, Patch, C, Perez-Gil, D, Pereira, MB, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, SC, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, AL, Thomas, ERA, Thompson, SR, Tucci, A, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Riess, O, Haack, TB, Graessner, H, Zurek, B, Ellwanger, K, Ossowski, S, Demidov, G, Sturm, M, Schulze-Hentrich, JM, Schüle, R, Kessler, C, Wayand, M, Synofzik, M, Wilke, C, Traschütz, A, Schöls, L, Hengel, H, Heutink, P, Brunner, H, Scheffer, H, Hoogerbrugge, N

المصدر: Human Genetics and Genomics Advances , 4 (2) , Article 100186. (2023)

مصطلحات موضوعية: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, zebrafish fin regeneration, Extracellular matrix dependant signalling, Closca, Autosomal recessive ectodermal dysplasia type 14

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10174155/1/1-s2.0-S2666247723000180-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10174155/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10174155/1/1-s2.0-S2666247723000180-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10174155/

المؤلفون: Connolly, EA, Bhadri, VA, Wake, J, Ingley, KM, Lewin, J, Bae, S, Wong, DD, Long, AP, Pryor, D, Thompson, SR, Strach, MC, Grimison, PS, Mahar, A, Bonar, F, Maclean, F, Hong, A

Relation: Connolly, E. A., Bhadri, V. A., Wake, J., Ingley, K. M., Lewin, J., Bae, S., Wong, D. D., Long, A. P., Pryor, D., Thompson, S. R., Strach, M. C., Grimison, P. S., Mahar, A., Bonar, F., Maclean, F. & Hong, A. (2022). Systemic treatments and outcomes in CIC-rearranged Sarcoma: A national multi-centre clinicopathological series and literature review. CANCER MEDICINE, 11 (8), pp.1805-1816. https://doi.org/10.1002/cam4.4580.; http://hdl.handle.net/11343/305827

الاتاحة: http://hdl.handle.net/11343/305827

المؤلفون: Day, F, Sridharan, S, Lynam, J, Gedye, C, Johnson, C, Fraser, A, Thompson, SR, Michael, M, Leong, T, Roy, A, Kumar, M, van der Westhuizen, A, Quah, GT, Mandaliya, H, Mallesara, G, Sappiatzer, J, Oldmeadow, C, Martin, J

Relation: pii: 10.1186/s12885-022-10407-8; Day, F., Sridharan, S., Lynam, J., Gedye, C., Johnson, C., Fraser, A., Thompson, S. R., Michael, M., Leong, T., Roy, A., Kumar, M., van der Westhuizen, A., Quah, G. T., Mandaliya, H., Mallesara, G., Sappiatzer, J., Oldmeadow, C. & Martin, J. (2022). Chemoradiotherapy with concurrent durvalumab for the palliative treatment of oligometastatic oesophageal and gastrooesophageal carcinoma with dysphagia: a single arm phase II clinical trial (PALEO, sponsored by the Australasian Gastro-Intestinal Trials Group). BMC CANCER, 22 (1), https://doi.org/10.1186/s12885-022-10407-8.; http://hdl.handle.net/11343/334765

الاتاحة: http://hdl.handle.net/11343/334765

المؤلفون: Moreno-Ruiz, N, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furió-Tarí, P, Giess, A, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibáñez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Orioli, A, Patch, C, Perez-Gil, D, Pereira, MB, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Smith, SC, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Tanguy, M, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Lao, O, Aróstegui, JI, Laayouni, H, Casals, F

المصدر: European Journal of Human Genetics (2022) (In press).

مصطلحات موضوعية: Genomics England Research Consortium

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10158400/1/Ryten_Assessing%20the%20digenic%20model%20in%20rare%20disorders%20using%20population%20sequencing%20data_AOP.pdf; https://discovery.ucl.ac.uk/id/eprint/10158400/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10158400/1/Ryten_Assessing%20the%20digenic%20model%20in%20rare%20disorders%20using%20population%20sequencing%20data_AOP.pdf
https://discovery.ucl.ac.uk/id/eprint/10158400/

المؤلفون: Owen, N, Toms, M, Young, RM, Eintracht, J, Sarkar, H, Brooks, BP, Moosajee, M, Ambrose, JC, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de, BA, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furió-Tarí, P, Hackett, JM, Halai, D, Holman, JE, Hubbard, TJP, Jackson, R, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Coloboma, Congenital eye defects, Disease genetics, Genomic sequencing, Microphthalmia

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10142114/1/Owen_Identification%20of%204%20novel%20human%20ocular%20coloboma%20genes%20ANK3,%20BMPR1B,%20PDGFRA,%20and%20CDH4%20through%20evolutionary%20conserved%20vertebrate%20gene%20analysis_AOP.pdf; https://discovery.ucl.ac.uk/id/eprint/10142114/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10142114/1/Owen_Identification%20of%204%20novel%20human%20ocular%20coloboma%20genes%20ANK3,%20BMPR1B,%20PDGFRA,%20and%20CDH4%20through%20evolutionary%20conserved%20vertebrate%20gene%20analysis_AOP.pdf
https://discovery.ucl.ac.uk/id/eprint/10142114/

المؤلفون: Al-Jawahiri, R, Foroutan, A, Kerkhof, J, McConkey, H, Levy, M, Haghshenas, S, Rooney, K, Turner, J, Shears, D, Holder, M, Lefroy, H, Castle, B, Reis, LM, Semina, EV, Lachlan, K, Chandler, K, Wright, T, Clayton-Smith, J, Hug, FP, Pitteloud, N, Bartoloni, L, Hoffjan, S, Park, S-M, Thankamony, A, Lees, M, Wakeling, E, Naik, S, Hanker, B, Girisha, KM, Agolini, E, Giuseppe, Z, Alban, Z, Tessarech, M, Keren, B, Afenjar, A, Zweier, C, Reis, A, Smol, T, Tsurusaki, Y, Nobuhiko, O, Sekiguchi, F, Tsuchida, N, Matsumoto, N, Kou, I, Yonezawa, Y, Ikegawa, S, Callewaert, B, Freeth, M, Kleinendorst, L, Donaldson, A, Alders, M, De Paepe, A, Sadikovic, B, McNeill, A, Nickerson, D, Bamshad, M, Leal, S, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, SEA, Leong, IUS, Lopez, JF, FionaMaleady-Crowe, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O’Donovan, P, Odhams, CA, Patch, C, Pereira, MB, Perez-Gil, D, Pullinger, J, TahrimaRahim, Rendon, A, TimRogers, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, SC, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, AL, Thomas, ERA, Thompson, SR, Tucci, A, Welland, MJ, Williams, E, Witkowska, K, Wood, SM

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/190170/1/Al-Jawahiri%20et%20al.%202022.pdf; Al-Jawahiri, R orcid.org/0000-0002-5689-3368 , Foroutan, A, Kerkhof, J et al. (111 more authors) (2022) SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in Medicine, 24 (6). pp. 1261-1273. ISSN 1098-3600

الاتاحة: https://eprints.whiterose.ac.uk/190170/
https://eprints.whiterose.ac.uk/190170/1/Al-Jawahiri%20et%20al.%202022.pdf

المؤلفون: Shoemark, Amelia, Griffin, Helen, Wheway, Gabrielle, Hogg, Claire, Lucas, Jane S, Genomics England Research, Consortium, Camps, Carme, Taylor, Jenny, Carroll, Mary, Loebinger, Michael R, Chalmers, James D, Morris-Rosendahl, Deborah, Mitchison, Hannah M, Brown, D, De Soyza, Anthony, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O'Donovan, P, Odhams, CA, Patch, C, Perez-Gil, D, Pereira, MB, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, SC, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, AL, Thomas, ERA, Thompson, SR, Tucci, A, Welland, MJ, Williams, E, Witkowska, K, Wood, SM

المصدر: European Respiratory Journal , 60 (5) , Article 2200176. (2022)

مصطلحات موضوعية: Bronchiectasis, Cilia, Ciliary Motility Disorders, Ciliopathies, Humans, Kartagener Syndrome, Mutation

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10160898/1/Mitchison_Genome%20sequencing%20reveals%20underdiagnosis%20of%20primary%20ciliary%20dyskinesia%20in%20bronchiectasis_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10160898/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10160898/1/Mitchison_Genome%20sequencing%20reveals%20underdiagnosis%20of%20primary%20ciliary%20dyskinesia%20in%20bronchiectasis_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10160898/

المؤلفون: Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibanez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Elgar G, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntegart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Pereira MB, Perez-Gil D, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Welland MJ, Williams E, Witkowska KA, Wood SM

المصدر: The BMJ, 3 November 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/278450; https://eprints.ncl.ac.uk/fulltext.aspx?url=278450/8FBBDAE4-3A19-4564-A48B-ADA12F23AA8C.pdf&pub_id=278450

الاتاحة: https://eprints.ncl.ac.uk/278450

المؤلفون: Lin, SJ, Vona, B, Barbalho, PG, Kaiyrzhanov, R, Maroofian, R, Petree, C, Severino, M, Stanley, V, Varshney, P, Bahena, P, Alzahrani, F, Alhashem, A, Pagnamenta, AT, Aubertin, G, Estrada-Veras, JI, Hernández, HAD, Mazaheri, N, Oza, A, Thies, J, Renaud, DL, Dugad, S, McEvoy, J, Sultan, T, Pais, LS, Tabarki, B, Villalobos-Ramirez, D, Rad, A, Ambrose, JC, Arumugam, P, Bleda, M, Boardman-Pretty, F, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O‘Donovan, P, Odhams, CA, Patch, C, Perez-Gil, D, Pereira, MB, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, SC, Sosinsky, A, Stuckey, A, Tanguy, M, Thomas, ERA, Thompson, SR, Tucci, A, Walsh, E, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Galehdari, H, Ashrafzadeh, F, Sahebzamani, A, Saeidi, K, Torti, E, Elloumi, HZ, Mora, S, Palculict, TB, Yang, H, Wren, JD, Fowler, B, Joshi, M, Behra, M, Burgess, SM, Nath, SK, Hanna, MG, Kenna, M, Merritt, JL, Houlden, H, Karimiani, EG

المصدر: Genetics in Medicine , 23 (10) pp. 1933-1943. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10147987/1/nihms-1734679.pdf; https://discovery.ucl.ac.uk/id/eprint/10147987/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10147987/1/nihms-1734679.pdf
https://discovery.ucl.ac.uk/id/eprint/10147987/

المؤلفون: Pagnamenta, AT, Kaiyrzhanov, R, Zou, Y, Da'as, SI, Maroofian, R, Donkervoort, S, Dominik, N, Lauffer, M, Ferla, MP, Orioli, A, Giess, A, Tucci, A, Beetz, C, Sedghi, M, Ansari, B, Barresi, R, Basiri, K, Cortese, A, Elgar, G, Fernandez-Garcia, MA, Yip, J, Foley, AR, Gutowski, N, Jungbluth, H, Lassche, S, Lavin, T, Marcelis, C, Marks, P, Marini-Bettolo, C, Medne, L, Moslemi, A-R, Sarkozy, A, Reilly, MM, Muntoni, F, Millan, F, Muraresku, CC, Need, AC, Nemeth, AH, Neuhaus, SB, Norwood, F, O'Donnell, M, O’Driscoll, M, Rankin, J, Yum, SW, Zolkipli-Cunningham, Z, Brusius, I, Wunderlich, G, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Foulger, RE, Fowler, T, Furió-Tarí, P, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, ibáñez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, JF, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, O’Donovan, P, Odhams, CA, Patch, C, Pereira, MB, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Smith, SC, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Tanguy, M, Thomas, ERA, Thompson, SR, Tregidgo, C, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Karakaya, M, Wirth, B, Fakhro, KA, Tajsharghi, H, Bönnemann, CG, Taylor, JC, Houlden, H

Relation: Brain; Alistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, Sahar I Da'as, Reza Maroofian, Sandra Donkervoort, Natalia Dominik, Marlen Lauffer, Matteo P Ferla, Andrea Orioli, Adam Giess, Arianna Tucci, Christian Beetz, Maryam Sedghi, Behnaz Ansari, Rita Barresi, Keivan Basiri, Andrea Cortese, Greg Elgar, Miguel A Fernandez-Garcia, Janice Yip, A Reghan Foley, Nicholas Gutowski, Heinz Jungbluth, Saskia Lassche, Tim Lavin, Carlo Marcelis, Peter Marks, Chiara Marini-Bettolo, Livija Medne, Ali-Reza Moslemi, Anna Sarkozy, Mary M Reilly, Francesco Muntoni, Francisca Millan, Colleen C Muraresku, Anna C Need, Andrea H Nemeth, Sarah B Neuhaus, Fiona Norwood, Marie O'Donnell, Mary O’Driscoll, Julia Rankin, Sabrina W Yum, Zarazuela Zolkipli-Cunningham, Isabell Brusius, Gilbert Wunderlich, Genomics England Research Consortium, Mert Karakaya, Brunhilde Wirth, Khalid A Fakhro, Homa Tajsharghi, Carsten G Bönnemann, Jenny C Taylor, Henry Houlden, An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy, Brain, 2021;, awaa420, https://doi.org/10.1093/brain/awaa420; https://qmro.qmul.ac.uk/xmlui/handle/123456789/70063

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/70063
https://doi.org/10.1093/brain/awaa420

المؤلفون: Riddell MA, Edwards N, Thompson SR, Bernabe-Ortiz A, Praveen D, Johnson C, Kengne AP, Liu P, McCready T, Ng E, Nieuwlaat R, Ovbiagele B, Owolabi M, Peiris D, Thrift AG, Tobe S, Yusoff K, GACD Hypertension Research Programme

مصطلحات موضوعية: 1117 Public Health and Health Services, General & Internal Medicine, Humans, Hypertension, Chronic Disease, Cooperative Behavior, Consensus, Research Personnel, Global Health

وصف الملف: Electronic; application/pdf

Relation: Globalization and health; Globalization and health, 2017, 13, (1), pp. 17; http://hdl.handle.net/10453/140462

الاتاحة: http://hdl.handle.net/10453/140462

المؤلفون: Parry, DA, Martin, CA, Greene, P, Marsh, JA, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furió-Tarí, P, Giess, A, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibáñez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Orioli, A, Patch, C, Perez-Gil, D, Pereira, MB, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Smith, SC, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Tanguy, M, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Blyth, M, Cox, H, Donnelly, D, Greenhalgh, L, Greville-Heygate, S, Harrison, V, Lachlan, K, McKenna, C, Quigley, AJ, Rea, G, Robertson, L, Suri, M, Jackson, AP

المصدر: Genetics in Medicine (2020) (In press).

مصطلحات موضوعية: LMNB1, LMNB2, laminopathy, primary microcephaly, neurodevelopmental disorder

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10113404/1/s41436-020-00980-3.pdf; https://discovery.ucl.ac.uk/id/eprint/10113404/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10113404/1/s41436-020-00980-3.pdf
https://discovery.ucl.ac.uk/id/eprint/10113404/

المؤلفون: Cacheiro, P, Munoz-Fuentes, V, Murray, SA, Dickinson, ME, Bucan, M, Nutter, LMJ, Peterson, KA, Haselimashhadi, H, Flenniken, AM, Morgan, H, Westerberg, H, Konopka, T, Hsu, C-W, Christiansen, A, Lanza, DG, Beaudet, AL, Heaney, JD, Fuchs, H, Gailus-Durner, V, Sorg, T, Prochazka, J, Novosadova, V, Lelliott, CJ, Wardle-Jones, H, Wells, S, Teboul, L, Cater, H, Stewart, M, Hough, T, Wurst, W, Sedlacek, R, Adams, DJ, Seavitt, JR, Tocchini-Valentini, G, Mammano, F, Braun, RE, McKerlie, C, Herault, Y, de Angelis, MH, Mallon, A-M, Lloyd, KCK, Brown, SDM, Parkinson, H, Meehan, TF, Smedley, D, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furio-Tari, P, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibanez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, KR, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Marschall, S, Lengger, C, Maier, H, Seisenberger, C, Buerger, A, Kuehn, R, Schick, J, Hoerlein, A, Oritz, O, Giesert, F, Beig, J, Kenyon, J, Codner, G, Fray, M, Johnson, SJ, Cleak, J, Szoke-Kovacs, Z, Lafont, D, Vancollie, VE, McLaren, RSB, Hughes-Hallett, L, Rowley, C, Sanderson, E, Galli, A, Tuck, E, Green, A, Tudor, C, Siragher, E, Dabrowska, M, Mazzeo, CI, Griffiths, M, Gannon, D, Doe, B, Cockle, N, Kirton, A, Bottomley, J, Ingle, C, Ryder, E, Gleeson, D, Ramirez-Solis, R, Birling, M-C, Pavlovic, G, Ayadi, A, Hamid, M, About, GB, Champy, M-F, Jacobs, H, Wendling, O, Leblanc, S, Vasseur, L, Chesler, EJ, Kumar, V, White, JK, Svenson, KL, Wiegand, J-P, Anderson, LL, Wilcox, T, Clark, J, Ryan, J, Denegre, J, Stearns, T, Philip, V, Witmeyer, C, Bates, L, Seavey, Z, Stanley, P, Willet, A, Roper, W, Creed, J, Moore, M, Dorr, A, Fraungruber, P, Presby, R, Mckay, M, Nguyen-Bresinsky, D, Goodwin, L, Urban, R, Kane, C, Consortium, GER, Consortium, IMP

Relation: NATURE COMMUNICATIONS; ARTN 655; https://qmro.qmul.ac.uk/xmlui/handle/123456789/63299

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/63299
https://doi.org/10.1038/s41467-020-14284-2

المؤلفون: Freeman, TM, Wang, D, Harris, J, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furio-Tari, P, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibanez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, JF, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M

المصدر: Genome Research , 30 (3) pp. 415-426. (2020)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10094957/1/Genome%20Res.-2020-Freeman-415-26.pdf; https://discovery.ucl.ac.uk/id/eprint/10094957/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10094957/1/Genome%20Res.-2020-Freeman-415-26.pdf
https://discovery.ucl.ac.uk/id/eprint/10094957/

المؤلفون: Riddell, MA, Edwards, N, Thompson, SR, Bernabe-Ortiz, A, Praveen, D, Johnson, C, Kengne, AP, Liu, P, McCready, T, Ng, E, Nieuwlaat, R, Ovbiagele, B, Owolabi, M, Peiris, D, Thrift, AG, Tobe, S, Yusoff, K, Programme, GACD Hypertension Research

المساهمون: MacMahon, S

Relation: https://ora.ox.ac.uk/objects/uuid:9b746835-1665-44c2-afd7-10b0827974fe; https://doi.org/10.1186/s12992-017-0242-8

الاتاحة: https://doi.org/10.1186/s12992-017-0242-8
https://ora.ox.ac.uk/objects/uuid:9b746835-1665-44c2-afd7-10b0827974fe

المؤلفون: Hong, Y, Nanthapisal, S, Omoyinmi, E, Olbrich, P, Neth, O, Speckmann, C, Lucena, JM, Gilmour, K, Worth, A, Klein, N, Eleftheriou, D, Brogan, P, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furio-Tari, P, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibanez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M

مصطلحات موضوعية: digital vasculitis, C1q deficiency, SHORT syndrome, activated PI3K delta syndrome type 2, hyper-IgM syndrome, immunodeficiency

Relation: FRONTIERS IN IMMUNOLOGY; ARTN 2589; https://qmro.qmul.ac.uk/xmlui/handle/123456789/66525

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/66525
https://doi.org/10.3389/fimmu.2019.02589

المؤلفون: Wheway, G, Ambrose, JC, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furio-Tari, P, Hackett, JM, Halai, D, Holman, JE, Hubbard, TJP, Jackson, R, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Mitchison, HM, Consortium, GER

مصطلحات موضوعية: 100,000 Genome Project, ciliopathies, cilia, genomics, genetics

Relation: FRONTIERS IN GENETICS; ARTN 569; https://qmro.qmul.ac.uk/xmlui/handle/123456789/67317

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/67317
https://doi.org/10.3389/fgene.2019.00569

المؤلفون: Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Elgar G, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez JF, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Pereira MB, Perez-Gil D, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Larsen M, Hertz JM, Lilien MR, Obeidova L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R

المصدر: Kidney International, 2023

Relation: https://eprints.ncl.ac.uk/293849

الاتاحة: https://eprints.ncl.ac.uk/293849

المؤلفون: Long, JC, Debono, D, Williams, R, Salisbury, E, O'Neill, S, Eykman, E, Butler, J, Rawson, R, Phan-Thien, KC, Thompson, SR, Braithwaite, J, Chin, M, Taylor, N

المصدر: urn:ISSN:1472-6963 ; BMC Health Services Research, 18, 1, 904

مصطلحات موضوعية: 4203 Health Services and Systems, 42 Health Sciences, Rare Diseases, Prevention, Dissemination and Implementation Research, Cancer, Clinical Research, Health Services, 3 Good Health and Well Being, Australia, Colorectal Neoplasms, Hereditary Nonpolyposis, Decision Making, Early Detection of Cancer, Facilities and Services Utilization, Focus Groups, Health Personnel, Hospitals, Humans, Implementation Science, Medical Oncology, Patient Safety, Referral and Consultation, Retrospective Studies, Surveys and Questionnaires, Behaviour change, Hereditary cancer, Implementation, Pathology, Referral

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_54814

الاتاحة: http://hdl.handle.net/1959.4/unsworks_54814
https://unsworks.unsw.edu.au/bitstreams/480b5e04-37ab-4afe-8409-444e13f14948/download
https://doi.org/10.1186/s12913-018-3653-1