학술논문
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'학술논문'
에서 검색결과 58건 | 목록
1~20
Academic Journal
Eric Olinger; Ian J. Wilson; Sarah Orr; Miguel Barroso-Gil; Ruxandra Neatu; Denize Atan; John A. Sayer; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Mark J. Caulfield; Georgia C. Chan; Greg Elgar; Tom Fowler; Adam Giess; Angela Hamblin; Shirley Henderson; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R.A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood
Genetics in Medicine Open, Vol 2, Iss , Pp 101834- (2024)
Academic Journal
John Old; Adele Timbs; Janice McCarthy; Alice Gallienne; Melanie Proven; Michelle Rugless; Herminio Lopez; Jennifer Eglinton; Dariusz Dziedzic; Matthew Beardsall; Mohamed S.M. Khalila; Shirley Henderson
Thalassemia Reports, Vol 8, Iss 1 (2018)
Academic Journal
Angela Hamblin; Sarah Wordsworth; Jilles M Fermont; Suzanne Page; Kulvinder Kaur; Carme Camps; Pamela Kaisaki; Avinash Gupta; Denis Talbot; Mark Middleton; Shirley Henderson; Anthony Cutts; Dimitrios V Vavoulis; Nick Housby; Ian Tomlinson; Jenny C Taylor; Anna Schuh
PLoS Medicine, Vol 14, Iss 2, p e1002230 (2017)
Academic Journal
Pamela J Kaisaki; Anthony Cutts; Niko Popitsch; Carme Camps; Melissa M Pentony; Gareth Wilson; Suzanne Page; Kulvinder Kaur; Dimitris Vavoulis; Shirley Henderson; Avinash Gupta; Mark R Middleton; Ioannis Karydis; Denis C Talbot; Anna Schuh; Jenny C Taylor
PLoS ONE, Vol 11, Iss 9, p e0162809 (2016)
Academic Journal
Haematologica, Vol 97, Iss 3 (2012)
Academic Journal
Ria Schönauer; Dana Sierks; Melissa Boerrigter; Tabinda Jawaid; Lea Caroff; Marie-Pierre Audrezet; Anja Friedrich; Melissa Shaw; Jan Degenhardt; Mirjam Forberger; Jonathan de Fallois; Hendrik Bläker; Carsten Bergmann; Juliana Gödiker; Philipp Schindler; Bernhard Schlevogt; Roman-U. Müller; Thomas Berg; Ilse Patterson; William J. Griffiths; John A. Sayer; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Mark J. Caulfield; Georgia C. Chan; Greg Elgar; Tom Fowler; Adam Giess; Angela Hamblin; Shirley Henderson; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R.A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Bernt Popp; Vicente E. Torres; Marie C. Hogan; Stefan Somlo; Terry J. Watnick; Frederik Nevens; Whitney Besse; Emilie Cornec-Le Gall; Peter C. Harris; Joost P.H. Drenth; Jan Halbritter
Gastroenterology, 166, 5, pp. 902-914
Academic Journal
Alona Sosinsky; John Ambrose; William Cross; Clare Turnbull; Shirley Henderson; Louise Jones; Angela Hamblin; Prabhu Arumugam; Georgia Chan; Daniel Chubb; Boris Noyvert; Jonathan Mitchell; Susan Walker; Katy Bowman; Dorota Pasko; Marianna Buongermino Pereira; Nadezda Volkova; Antonio Rueda-Martin; Daniel Perez-Gil; Javier Lopez; John Pullinger; Afshan Siddiq; Tala Zainy; Tasnim Choudhury; Olena Yavorska; Tom Fowler; David Bentley; Clare Kingsley; Sandra Hing; Zandra Deans; Augusto Rendon; Sue Hill; Mark Caulfield; Nirupa Murugaesu
Nat Med
Academic Journal
Laura R. Claus; Chuan Chen; Jennifer Stallworth; Joshua L. Turner; Gisela G. Slaats; Alexandra L. Hawks; Holly Mabillard; Sarah R. Senum; Sujata Srikanth; Heather Flanagan-Steet; Raymond J. Louie; Josh Silver; Jordan Lerner-Ellis; Chantal Morel; Chloe Mighton; Frank Sleutels; Marjon van Slegtenhorst; Tjakko van Ham; Alice S. Brooks; Eiske M. Dorresteijn; Tahsin Stefan Barakat; Karin Dahan; Nathalie Demoulin; Eric Jean Goffin; Eric Olinger; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Mark J. Caulfield; Georgia C. Chan; Greg Elgar; Tom Fowler; Adam Giess; Angela Hamblin; Shirley Henderson; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R.A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Martin Larsen; Jens Michael Hertz; Marc R. Lilien; Lena Obeidová; Tomas Seeman; Hillarey K. Stone; Larissa Kerecuk; Mihai Gurgu; Fjodor A. Yousef Yengej; Carola M.E. Ammerlaan; Maarten B. Rookmaaker; Christian Hanna; R. Curtis Rogers; Karen Duran; Edith Peters; John A. Sayer; Gijs van Haaften; Peter C. Harris; Kun Ling; Jennifer M. Mason; Albertien M. van Eerde; Richard Steet
Kidney International, Vol. 104, no. 5, p. 995-1007 (2023)
Academic Journal
Annalisa Vetro; Cristiana Pelorosso; Simona Balestrini; Alessio Masi; Sophie Hambleton; Emanuela Argilli; Valerio Conti; Simone Giubbolini; Rebekah Barrick; Gaber Bergant; Karin Writzl; Emilia K. Bijlsma; Theresa Brunet; Pilar Cacheiro; Davide Mei; Anita Devlin; Mariëtte J.V. Hoffer; Keren Machol; Guido Mannaioni; Masamune Sakamoto; Manoj P. Menezes; Thomas Courtin; Elliott Sherr; Riccardo Parra; Ruth Richardson; Tony Roscioli; Marcello Scala; Celina von Stülpnagel; Damian Smedley; Francesca Pochiero; Francesco Mari; Venkateswaran Ramesh; Valeria Capra; Margherita Mancardi; Boris Keren; Cyiril Mignot; Matteo Lulli; Kendall Parks; Helen Griffin; Melanie Brugger; Vincenzo Nigro; Yuko Hirata; Reiko Koichihara; Borut Peterlin; Ryuto Maki; Yohei Nitta; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Matthew A. Brown; Mark J. Caulfield; Georgia C. Chan; Adam Giess; John N. Griffin; Angela Hamblin; Shirley Henderson; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Anna Lakey; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Jonathan Mitchell; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Daniel Perez-Gil; Marina B. Pereira; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R.A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Magdalena Zarowiecki; Annalaura Torella; Jun Tohyama; Keisuke Hamada; Kazuhiro Ogata; Takashi Suzuki; Atsushi Sugie; Jasper J. van der Smagt; Koen van Gassen; Stephanie Valence; Emma Vittery; Stephen Malone; Mitsuhiro Kato; Naomichi Matsumoto; Gian Michele Ratto; Renzo Guerrini
Am J Hum Genet
American journal of human genetics 110 (2023): 1356–1376. doi:10.1016/j.ajhg.2023.06.008
info:cnr-pdr/source/autori:Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina;Smedley, Damian;Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley;/titolo:Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration/doi:10.1016%2Fj.ajhg.2023.06.008/rivista:American journal of human genetics/anno:2023/pagina_da:1356/pagina_a:1376/intervallo_pagine:1356–1376/volume:110
American Journal of Human Genetics, vol 110, iss 8
American journal of human genetics 110 (2023): 1356–1376. doi:10.1016/j.ajhg.2023.06.008
info:cnr-pdr/source/autori:Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina;Smedley, Damian;Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley;/titolo:Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration/doi:10.1016%2Fj.ajhg.2023.06.008/rivista:American journal of human genetics/anno:2023/pagina_da:1356/pagina_a:1376/intervallo_pagine:1356–1376/volume:110
American Journal of Human Genetics, vol 110, iss 8
Academic Journal
Helena Martins Custodio; Lisa M Clayton; Ravishankara Bellampalli; Susanna Pagni; Katri Silvennoinen; Richard Caswell; John C Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R Boustred; Helen Brittain; Matthew A Brown; Mark J Caulfield; Georgia C Chan; Adam Giess; John N Griffin; Angela Hamblin; Shirley Henderson; Tim J P Hubbard; Rob Jackson; Louise J Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Anna Lakey; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Jonathan Mitchell; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C Need; Peter O'Donovan; Chris A Odhams; Christine Patch; Daniel Perez-Gil; Marina B Pereira; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H Scott; Afshan Siddiq; Alexander Sieghart; Samuel C Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R A Thomas; Simon R Thompson; Arianna Tucci; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Magdalena Zarowiecki; Andreas Brunklaus; Renzo Guerrini; Bobby P C Koeleman; Johannes R Lemke; Rikke S Møller; Ingrid E Scheffer; Sarah Weckhuysen; Federico Zara; Sameer Zuberi; Karoline Kuchenbaecker; Simona Balestrini; James D Mills; Sanjay M Sisodiya
Brain
Academic Journal
Matteo Zanovello; Kristina Ibáñez; Anna-Leigh Brown; Prasanth Sivakumar; Alessandro Bombaci; Liana Santos; Joke J F A van Vugt; Giuseppe Narzisi; Ramita Karra; Sonja W Scholz; Jinhui Ding; J Raphael Gibbs; Adriano Chiò; Clifton Dalgard; Ben Weisburd; John C Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R Boustred; Helen Brittain; Mark J Caulfield; Georgia C Chan; Greg Elgar; Tom Fowler; Adam Giess; Angela Hamblin; Shirley Henderson; Tim J P Hubbard; Rob Jackson; Louise J Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C Need; Peter O’Donovan; Chris A Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H Scott; Afshan Siddiq; Alexander Sieghart; Samuel C Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R A Thomas; Simon R Thompson; Arianna Tucci; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Wouter Van Rheenen; Sara L Pulit; Annelot M Dekker; Ahmad Al Khleifat; William J Brands; Alfredo Iacoangeli; Kevin P Kenna; Ersen Kavak; Maarten Kooyman; Russell L McLaughlin; Bas Middelkoop; Matthieu Moisse; Raymond D Schellevis; Aleksey Shatunov; William Sproviero; Gijs H P Tazelaar; Rick A A Van der Spek; Perry T C Van Doormaal; Kristel R Van Eijk; Joke Van Vugt; A Nazli Basak; Ian P Blair; Jonathan D Glass; Orla Hardiman; Winston Hide; John E Landers; Jesus S Mora; Karen E Morrison; Stephen Newhouse; Wim Robberecht; Christopher E Shaw; Pamela J Shaw; Philip Van Damme; Michael A Van Es; Naomi R Wray; Ammar Al-Chalabi; Leonard H Van den Berg; Jan H Veldink; Michael G Hanna; Linda Greensmith; Hemali Phatnani; Bryan J Traynor; James Polke; Henry Houlden; Pietro Fratta
Brain
Zanovello, M, Ibáñez, K, Brown, A-L, Sivakumar, P, Bombaci, A, Santos, L, van Vugt, J J F A, Narzisi, G, Karra, R, Scholz, S W, Ding, J, Gibbs, J R, Chiò, A, Dalgard, C, Weisburd, B, Hanna, M G, Greensmith, L, Phatnani, H, Veldink, J H, Traynor, B J, Polke, J, Houlden, H, Fratta, P, Tucci, A, Morrison, K, The American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium & The NYGC ALS Consortium 2023, 'Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population', Brain, vol. 146, no. 7, pp. 2723-2729. https://doi.org/10.1093/brain/awad050
Zanovello, M, Ibáñez, K, Brown, A-L, Sivakumar, P, Bombaci, A, Santos, L, van Vugt, J J F A, Narzisi, G, Karra, R, Scholz, S W, Ding, J, Gibbs, J R, Chiò, A, Dalgard, C, Weisburd, B, Hanna, M G, Greensmith, L, Phatnani, H, Veldink, J H, Traynor, B J, Polke, J, Houlden, H, Fratta, P, Tucci, A, Morrison, K, The American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium & The NYGC ALS Consortium 2023, 'Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population', Brain, vol. 146, no. 7, pp. 2723-2729. https://doi.org/10.1093/brain/awad050
Academic Journal
Samar Yahya; Claire E.L. Smith; James A. Poulter; Martin McKibbin; Gavin Arno; Jamie Ellingford; Kati Kämpjärvi; Muhammad I. Khan; Frans P.M. Cremers; Alison J. Hardcastle; Bruce Castle; David H.W. Steel; Andrew R. Webster; Graeme C. Black; Mohammed E. El-Asrag; Manir Ali; Carmel Toomes; Chris F. Inglehearn; Stuart Ingram; Rachel Taylor; Forbes Manson; Panagiotis Sergouniotis; Nikolas Pontikos; Michael Cheetham; Alessia Fiorentino; Susan Downes; Jing Yu; Stephanie Halford; Suzanne Broadgate; Veronica van Heyningen; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Mark J. Caulfield; Georgia C. Chan; Greg Elgar; Tom Fowler; Adam Giess; Angela Hamblin; Shirley Henderson; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R.A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood
Ophthalmology, 130, 1, pp. 68-76
Yahya, S, Smith, C E L, Poulter, J A, McKibbin, M, Arno, G, Ellingford, J, Kämpjärvi, K, Khan, M I, Cremers, F P M, Hardcastle, A J, Castle, B, Steel, D H W, Webster, A R, Black, G C, El-Asrag, M E, Ali, M, Toomes, C, Inglehearn, C F, Ingram, S, Taylor, R, Manson, F, Sergouniotis, P, Pontikos, N, Cheetham, M, Fiorentino, A, Downes, S, Yu, J, Halford, S, Broadgate, S, van Heyningen, V, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, S E A, Leong, I U S, Lopez, J F, Maleady-Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O'Donovan, P, Odhams, C A, Patch, C, Pereira, M B, Perez-Gil, D, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smith, S C, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, A L, Thomas, E R A, Thompson, S R, Tucci, A, Welland, M J, Williams, E, Witkowska, K & Wood, S M 2023, ' Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene ', Ophthalmology, vol. 130, no. 1, pp. 68-76 . https://doi.org/10.1016/j.ophtha.2022.07.023
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Brain
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Nature
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
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UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
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Genet Med
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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; John C Ambrose; Prabhu Arumugam; Emma L Baple; Marta Bleda; Freya Boardman-Pretty; Jeanne M Boissiere; Christopher R Boustred; Helen Brittain; Mark J Caulfield; Georgia C Chan; Clare E H Craig; Louise C Daugherty; Anna de Burca; Andrew Devereau; Rebecca E Foulger; Tom Fowler; Pedro Furió-Tarí; Joanne M Hackett; Dina Halai; Angela Hamblin; Shirley Henderson; James E Holman; Tim J P Hubbard; Kristina ibáñez; Rob Jackson; Louise J Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Kay Lawson; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Joanne Mason; Ellen M McDonagh; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Peter O’Donovan; Chris A Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; Dimitris Polychronopoulos; John Pullinger; Tahrima Rahim; Augusto Rendon; Pablo Riesgo-Ferreiro; Tim Rogers; Mina Ryten; Kevin Savage; Kushmita Sawant; Richard H Scott; Afshan Siddiq; Alexander Sieghart; Damian Smedley; Katherine R Smith; Samuel C Smith; Alona Sosinsky; William Spooner; Helen E Stevens; Alexander Stuckey; Razvan Sultana; Mélanie Tanguy; Ellen R A Thomas; Simon R Thompson; Carolyn Tregidgo; Emma Walsh; Sarah A Watters; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Magdalena Zarowiecki; Mert Karakaya; Brunhilde Wirth; Khalid A Fakhro; Homa Tajsharghi; Carsten G Bönnemann; Jenny C Taylor; Henry Houlden
Brain
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Brain, 144, 2, pp. 584-600
Academic Journal
Nirupa Murugaesu; Alona Sosinsky; John Ambrose; William Cross; Clare Turnbull; Shirley Henderson; J Jones; Angela Hamblin; Prabhu Arumugam; Georgia Chan; Daniel Chubb; Boris Noyvert; Jonathan Mitchell; Susan Walker; Katy Bowman; Dorota Pasko; Marianna Pereira; Nadezda Volkova; Antonio Rueda-Martin; Daniel Perez Gil; Javier Lopez; John Pullinger; Afshan Siddiq; Tala Zainy; Tasnim Choudhury; Augusto Rendon; Tom Fowler; Sandra Hing; Zandra Deans; Genomics England Research Consortium Genomics England Resear Consortium; Sue Hill; Mark Caulfield
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Anthony Cutts; Dimitrios V. Vavoulis; Mary Petrou; Frances Smith; Barnaby Clark; Shirley Henderson; Anna Schuh
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Genome Med
Genome Medicine, Vol 14, Iss 1, Pp 1-20 (2022)
Genome Medicine, vol 14, iss 1
Genome Medicine, Vol 14, Iss 1, Pp 1-20 (2022)
Genome Medicine, vol 14, iss 1
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