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'학술논문'
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1~20
Academic Journal
Andrew F Green; Carlos Eduardo Ribas; Isaac Jandalala; Philippa Muston; Colman O'Cathail; Guy Cochrane; Christina Ernst; Lingyun Zhao; Pedro Madrigal; Helen Attrill; Steven Marygold; Doron Lancet; Niv Dobzinski; Patricia P Chan; Todd M Lowe; Elspeth A Bruford; Ruth L Seal; Henning Hermjakob; Kalpana Panneerselvam; Robert D Finn; Tatiana A. Gurbich; Sam Griffiths-Jones; Bastian Fromm; Kevin J Peterson; Dominik Sordyl; Janusz M Bujnicki; Sameer Velankar; Sri Devan Appasamy; Sudakshina Ganguly; Peng Zhang; Shunmin He; Kim Matthew Rutherford; Valerie Wood; Ruth Caroline Lovering; Ernesto Picardi; Nancy Ontiveros; Lin Huang; Zhichao Miao; Anton S Petrov; Holly McCann; Emanuele Cavalleri; Marco Mesiti; Elena Rivas; Marcell Szikszai; Marcin Magnus; Jan Gerken; Maria Chuvochina; Danny Bergeron; Michelle S Scott; Kelly P Williams; Mark Quinton-Tulloch; Stavros Diamantakis; Anton I Petrov; Alex Bateman; Blake Sweeney
Academic Journal
Emma Layton; Sian Goldsworthy; EnJun Yang; Wei Yee Ong; Tara E. Sutherland; Allison J. Bancroft; Seona Thompson; Veonice Bijin Au; Sam Griffiths-Jones; Richard K. Grencis; Anna-Marie Fairhurst; Ian S. Roberts
Nature Communications, Vol 16, Iss 1, Pp 1-12 (2025)
Academic Journal
Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E.; Iglesias-Romero, Ana Belén; Boonen, Erica G. M.; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K.; Tsang, Stephen H.; Corradi, Zelia; Freund, K. Bailey; Shliaga, Stefanida; Panneman, Daan M.; Hitti-Malin, Rebekkah J.; Ali, Manir; AlTalbishi, Ala’a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D. N.; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T. S.; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G.; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J. F.; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M.; Burin des Roziers, Cyril; Cadena, Elizabeth L.; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P.; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N.; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L.; Farrar, G. Jane; Feltgen, Nicolas; Fenner, Beau J.; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M.; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C.; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B.; Haer-Wigman, Lonneke; Hardcastle, Alison J.; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H.; Hoischen, Alexander; Holtan, Josephine P.; Hoyng, Carel B.; Ibanez, IV, Manuel Benjamin B.; Inglehearn, Chris F.; Iwata, Takeshi; Jensson, Brynjar O.; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Knézy, Krisztina; Koenekoop, Robert K.; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M.; Leibu, Rina; Leroy, Bart P.; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R. de J.; Mahieu, Quinten; Mahroo, Omar A.; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M. Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L.; Meunier, Isabelle; Michaelides, Michel; Millán, José M.; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A.; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I.; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H.; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M.; Scarpato, Margherita; Scholl, Hendrik P. N.; Sharon, Dror; Signorini, Sabrina G.; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S.; Szabó, Viktória; Szaflik, Jacek P.; Taurina, Gita; Thiadens, Alberta A. H. J.; Toomes, Carmel; Tran, Viet H.; Tsilimbaris, Miltiadis K.; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L. Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J. M.; Vincent, Andrea L.; Webster, Andrew R.; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G.; Yoshitake, Kazutoshi; Zenteno, Juan C.; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I.; Lin, Siying; Cremers, Frans P. M.; Lee, Winston; Ellingford, Jamie M.; Stanek, David; Roosing, Susanne; Rivolta, Carlo
Nature Genetics. 58(1):169-179
Academic Journal
The Bone & Joint Journal. Dec 01, 2024 106-B(12):1363-1368
Book
Tomb and Temple: Re-imagining the Sacred Buildings of Jerusalem. 13:301-328
Academic Journal
Mathieu Quinodoz; Kim Rodenburg; Zuzana Cvackova; Karolina Kaminska; Suzanne E de Bruijn; Ana Belén Iglesias-Romero; Erica G M Boonen; Mukhtar Ullah; Nick Zomer; Marc Folcher; Jacques Bijon; Lara K Holtes; Stephen H Tsang; Zelia Corradi; K Bailey Freund; Stefanida Shliaga; Daan M Panneman; Rebekkah J Hitti-Malin; Manir Ali; Ala’a AlTalbishi; Sten Andréasson; Georg Ansari; Gavin Arno; Galuh D N Astuti; Carmen Ayuso; Radha Ayyagari; Sandro Banfi; Eyal Banin; Mirella T S Barboni; Miriam Bauwens; Tamar Ben-Yosef; David G Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J F Boon; Kari Branham; Alexis Ceecee Britten-Jones; Kinga M Bujakowska; Elizabeth L Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Peter Charbel Issa; Naomi Chadderton; Luísa Coutinho-Santos; Stephen P Daiger; Elfride De Baere; Berta de la Cerda; John N De Roach; Julie De Zaeytijd; Ronny Derks; Claire-Marie Dhaenens; Lubica Dudakova; Jacque L Duncan; G Jane Farrar; Nicolas Feltgen; Lidia Fernández-Caballero; Juliana M Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C Gardner; Christian Gilissen; Kensuke Goto; Roser Gonzàlez-Duarte; Sam Griffiths-Jones; Tobias B Haack; Lonneke Haer-Wigman; Alison J Hardcastle; Takaaki Hayashi; Elise Héon; Alexander Hoischen; Josephine P Holtan; Carel B Hoyng; Manuel Benjamin B Ibanez; Chris F Inglehearn; Takeshi Iwata; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Krisztina Knézy; Caroline C W Klaver; Robert K Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M Lamey; Bart P Leroy; María Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; Rina Leibu; Siying Lin; Petra Liskova; Irma Lopez; Victor R de J López-Rodríguez; Omar A Mahroo; Gaël Manes; Martin McKibbin; Terri L McLaren; Isabelle Meunier; Michel Michaelides; José M Millán; Kei Mizobuchi; Rajarshi Mukherjee; Zoltán Zsolt Nagy; Kornelia Neveling; Monika Ołdak; Michiel Oorsprong; Yang Pan; Anastasia Papachristou; Antonio Percesepe; Maximilian Pfau; Eric A Pierce; Emily Place; Raj Ramesar; Florence Andrée Rasquin; Gillian I Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Eddera; Ataf H Sabir; Ai Fujita Sajiki; Ana Isabel Sánchez-Barbero; Asodu Sandeep Sarma; Riccardo Sangermano; Cristina M Santos; Margherita Scarpato; Hendrik P N Scholl; Dror Sharon; Sabrina Giovanna Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Katarina Stingl; Akiko Suga; Lori S Sullivan; Viktória Szabó; Jacek P Szaflik; Gita Taurina; Carmel Toomes; Viet H Tran; Miltiadis K Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Joseph van Aerschot; L. Ingeborgh van den Born; Andrew R Webster; Laura Whelan; Bernd Wissinger; Georgia G Yioti; Kazutoshi Yoshitake; Juan C Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I Jacob; Frans P M Cremers; Winston Lee; Jamie M Ellingford; David Stanek; Carlo Rivolta; Susanne Roosing
medRxiv
medRxiv : the preprint server for health sciences
United States
United Kingdom
Quinodoz, M, Rodenburg, K, Cvackova, Z, Kaminska, K, de Bruijn,S E, Iglesias-Romero, A B, Boonen, E G M, Ullah, M, Zomer, N, Folcher, M, Bijon, J, Holtes, L K, Tsang, S H, Corradi, Z, Freund, K B, Shliaga, S , Panneman, D M, Hitti-Malin, R J, Ali, M, AlTalbishi, A, Andréasson, S , Ansari, G, Arno, G, Astuti, G D N, Ayuso, C, Ayyagari, R, Banfi, S , Banin, E, Barboni, M T S , Bauwens, M, Ben-Yosef, T, Birch, D G, Biswas, P, Blanco-Kelly, F, Bocquet, B, Boon, C J F, Branham, K, Britten-Jones , A C, Bujakowska, K M, Cadena, E L, Calzetti, G, Cancellieri, F, Cattaneo, L, Issa, P C, Chadderton, N, Coutinho-Santos, L, Daiger, S P, De Baere, E, de la Cerda, B, De Roach, J N, De Zaeytijd, J, Derks, R, Dhaenens, C-M, Dudakova, L, Duncan, J L, Farrar, G J, Feltgen, N, Fernández-Caballero, L, Sallum, J M F, Gana, S , Garanto, A, Gardner, J C, Gilissen, C, Goto, K, Gonzàlez-Duarte, R, Griffiths -Jones , S , Haack, T B, Haer-Wigman, L, Hardcastle, A J, Hayashi, T, Héon, E, Hoischen, A, Holtan, J P, Hoyng, C B, Ibanez, M B B, Inglehearn, C F, Iwata, T, Jones , K, Kalatzis, V, Kamakari, S , Karali, M, Kellner, U, Knézy, K, Klaver, C C W, Koenekoop, R K, Kohl, S , Kominami, T, Kühlewein, L, Lamey, T M, Leroy, B P, Martín-Gutiérrez, M P, Martins, N, Mauring, L, Leibu, R, Lin, S , Liskova, P, Lopez, I, López-Rodríguez, V R D J, Mahroo, O A, Manes, G, McKibbin, M, McLaren, T L, Meunier, I, Michaelides, M, Millán, J M, Mizobuchi, K, Mukherjee, R, Nagy, Z Z, Neveling, K, Ołdak, M, Oorsprong, M, Pan, Y, Papachristou, A, Percesepe, A, Pfau, M, Pierce, E A, Place, E, Ramesar, R, Rasquin, F A, Rice, G I, Roberts, L, Rodríguez-Hidalgo, M, Ruiz-Eddera, J, Sabir, A H, Sajiki, A F, Sánchez-Barbero, A I, Sarma, A S , Sangermano, R, Santos, C M, Scarpato, M, Scholl, H P N, Sharon, D, Signorini, S G, Simonelli, F, Sousa, A B, Stefaniotou, M, Stingl, K, Suga, A, Sullivan, L S , Szabó, V, Szaflik, J P, Taurina, G, Toomes, C, Tran, V H, Tsilimbaris, M K, Tsoka, P, Vaclavik, V, Vajter, M, Valeina, S , Valente, E M, Valentine, C, Valero, R, van Aerschot, J, van den Born, L I, Webster, A R, Whelan, L, Wissinger, B, Yioti, G G, Yoshitake, K, Zenteno, J C, Zeuli, R, Zuleger, T, Landau, C, Jacob, A I, Cremers, F P M, Lee, W, Ellingford, J M, Stanek, D, Rivolta, C & Roosing, S 2025 'De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa' medRxiv, medRxiv. https://doi.org/10.1101/2025.01.06.24317169
medRxiv : the preprint server for health sciences
United States
United Kingdom
Quinodoz, M, Rodenburg, K, Cvackova, Z, Kaminska, K, de Bruijn,
Academic Journal
Green, Andrew; Ribas, Carlos Eduardo; Jandalala, Isaac; Muston, Philippa; O'Cathail, Colman; Cochrane, Guy; Ernst, Christina; Zhao, Lingyun; Madrigal, Pedro; Attrill, Helen; Marygold, Steven; Lancet, Doron; Dobzinski, Niv; Chan, Patricia P.; Lowe, Todd M.; Bruford, Elspeth A.; Seal, Ruth L.; Hermjakob, Henning; Panneerselvam, Kalpana; Finn, Robert D.; Gurbich, Tatiana A.; Griffiths-Jones, Sam; Fromm, Bastian; Peterson, Kevin J.; Sordyl, Dominik; Bujnicki, Janusz M.; Velankar, Sameer; Appasamy, Sri Devan; Ganguly, Sudakshina; Zhang, Peng; He, Shunmin; Rutherford, Kim M.; Wood, Valerie; Lovering, Ruth C.; Picardi, Ernesto; Ontiveros, Nancy; Huang, Lin; Miao, Zhichao; Petrov, Anton S.; McCann, Holly; Cavalleri, Emanuele; Mesiti, Marco; Rivas, Elena; Szikszai, Marcell; Magnus, Marcin; Gerken, Jan; Chuvochina, Maria; Bergeron, Danny; Scott, Michelle; Williams, Kelly P.; Gutell, Robin R.; Chan, Cheong Xin; Quinton-Tulloch, Mark; Diamantakis, Stavros; Petrov, Anton, I; Bateman, Alex; Sweeney, Blake A.; RNAcent Consortium
Academic Journal
Darren B, Chen; Jil A, Wood; William, Griffiths-Jones; Johan, Bellemans; Fares S, Haddad; Samuel J, MacDessi
The bone & joint journal. (12)
Academic Journal
The bone & joint journal. (6)
Academic Journal
PLoS Computational Biology. November 3, 2025, Vol. 21 Issue 11, pe1013663.
Academic Journal
Sweeney, Blake A; Petrov, Anton I; Ribas, Carlos E; Finn, Robert D; Bateman, Alex; Szymanski, Maciej; Karlowski, Wojciech M; Seemann, Stefan E; Gorodkin, Jan; Cannone, Jamie J; Gutell, Robin R; Kay, Simon; Marygold, Steven; dos Santos, Gil; Frankish, Adam; Mudge, Jonathan M; Barshir, Ruth; Fishilevich, Simon; Chan, Patricia P; Lowe, Todd M; Seal, Ruth; Bruford, Elspeth; Panni, Simona; Porras, Pablo; Karagkouni, Dimitra; Hatzigeorgiou, Artemis G; Ma, Lina; Zhang, Zhang; Volders, Pieter-Jan; Mestdagh, Pieter; Griffiths-Jones, Sam; Fromm, Bastian; Peterson, Kevin J; Kalvari, Ioanna; Nawrocki, Eric P; Petrov, Anton S; Weng, Shuai; Bouchard-Bourelle, Philia; Scott, Michelle; Lui, Lauren M; Hoksza, David; Lovering, Ruth C; Kramarz, Barbara; Mani, Prita; Ramachandran, Sridhar; Weinberg, Zasha
Nucleic Acids Res
Sweeney, B A, Petrov, A I, Ribas, C E, Finn, R D, Bateman, A, Szymanski, M, Karlowski, W M, Seemann,S E, Gorodkin, J, Cannone, J J, Gutell, R R, Kay, S , Marygold, S , Dos Santos, G, Frankish, A, Mudge, J M, Barshir, R, Fishilevich, S , Chan, P P, Lowe, T M, Seal, R, Bruford, E, Panni, S , Porras, P, Karagkouni, D, Hatzigeorgiou, A G, Ma, L, Zhang, Z, Volders, P J, Mestdagh, P, Griffiths -Jones , S , Fromm, B, Peterson, K J, Kalvari, I, Nawrocki, E P, Petrov, A S , Weng, S , Bouchard-Bourelle, P, Scott, M, Lui, L M, Hoksza, D, Lovering, R C, Kramarz, B, Mani, P, Ramachandran, S & Weinberg, Z 2021, ' RNAcentral 2021 : Secondary structure integration, improved sequence search and new member databases ', Nucleic Acids Research, vol. 49, no. D1, pp. D212-D220 . https://doi.org/10.1093/nar/gkaa921
Nucleic Acids Research, vol 49, iss D1
NUCLEIC ACIDS RESEARCH
Sweeney, B A, Petrov, A I, Ribas, C E, Finn, R D, Bateman, A, Szymanski, M, Karlowski, W M, Seemann,
Nucleic Acids Research, vol 49, iss D1
NUCLEIC ACIDS RESEARCH
Academic Journal
Druce, K.L.; Masood, Y.; Skyrme, S.; Griffiths-Jones, D.; Bravo Santisteban, R.D.; McBeth, J.; Dixon, W.G.; Chadwick, H.; van der Veer, S.N.; Bower, P.; Firth, J.; Sharp, C.A.; Armitage, C.J.; Dowding, D.; Sanders, C.
In: BMC Rheumatology . (BMC Rheumatology, December 2025, 9(1))
Academic Journal
Annals of the Rheumatic Diseases. 83:2213
Academic Journal
Annals of the Rheumatic Diseases. 83:834
Academic Journal
MacDessi, S. J.; Griffiths-Jones, W.; Chen, D. B.; Griffiths-Jones, S.; Wood, J. A.; Diwan, A. D.; Harris, I. A.
The Bone & Joint Journal. Jan 01, 2020 102-B(1):117-124
Academic Journal
Heightman, Tom D; Callahan, James F; Chiarparin, Elisabetta; Coyle, Joseph E; Griffiths-Jones, Charlotte; Lakdawala, Ami S; McMenamin, Rachel; Mortenson, Paul N; Norton, David; Peakman, Torren M; Rich, Sharna J; Richardson, Caroline; Rumsey, William L; Sanchez, Yolanda; Saxty, Gordon; Willems, Henriëtte MG; Wolfe, Lawrence; Woolford, Alison J-A; Wu, Zining; Yan, Hongxing; Kerns, Jeffrey K; Davies, Thomas G
Journal of Medicinal Chemistry. 62:4683-4702
Academic Journal
Evelyn E. Schwager; Prashant P. Sharma; Thomas Clarke; Daniel J. Leite; Torsten Wierschin; Matthias Pechmann; Yasuko Akiyama-Oda; Lauren Esposito; Jesper Bechsgaard; Trine Bilde; Alexandra D. Buffry; Hsu Chao; Huyen Dinh; HarshaVardhan Doddapaneni; Shannon Dugan; Cornelius Eibner; Cassandra G. Extavour; Peter Funch; Jessica Garb; Luis B. Gonzalez; Vanessa L. Gonzalez; Sam Griffiths-Jones; Yi Han; Cheryl Hayashi; Maarten Hilbrant; Daniel S. T. Hughes; Ralf Janssen; Sandra L. Lee; Ignacio Maeso; Shwetha C. Murali; Donna M. Muzny; Rodrigo Nunes da Fonseca; Christian L. B. Paese; Jiaxin Qu; Matthew Ronshaugen; Christoph Schomburg; Anna Schönauer; Angelika Stollewerk; Montserrat Torres-Oliva; Natascha Turetzek; Bram Vanthournout; John H. Werren; Carsten Wolff; Kim C. Worley; Gregor Bucher; Richard A. Gibbs; Jonathan Coddington; Hiroki Oda; Mario Stanke; Nadia A. Ayoub; Nikola-Michael Prpic; Jean-François Flot; Nico Posnien; Stephen Richards; Alistair P. McGregor
BMC Biology, Vol 15, Iss 1, Pp 1-27 (2017)
Academic Journal
Emma M Jenkinson; Mathieu P Rodero; Paul R Kasher; Carolina Uggenti; Anthony Oojageer; Laurence C Goosey; Yoann Rose; Christopher J Kershaw; Jill E Urquhart; Simon G Williams; Sanjeev S Bhaskar; James O'Sullivan; Gabriela M Baerlocher; Monika Haubitz; Geraldine Aubert; Kristin W Barañano; Angela J Barnicoat; Roberta Battini; Andrea Berger; Edward M Blair; Janice E Brunstrom-Hernandez; Johannes A Buckard; David M Cassiman; Rosaline Caumes; Duccio M Cordelli; Liesbeth M De Waele; Alexander J Fay; Patrick Ferreira; Nicholas A Fletcher; Alan E Fryer; Himanshu Goel; Cheryl A Hemingway; Marco Henneke; Imelda Hughes; Rosalind J Jefferson; Ram Kumar; Lieven Lagae; Pierre G Landrieu; Charles M Lourenço; Timothy J Malpas; Sarju G Mehta; Imke Metz; Sakkubai Naidu; Katrin Õunap; Axel Panzer; Prab Prabhakar; Gerardine Quaghebeur; Raphael Schiffmann; Elliott H Sherr; Kanaga R Sinnathuray; Calvin Soh; Helen S Stewart; John Stone; Hilde Van Esch; Christine E G Van Mol; Adeline Vanderver; Emma L Wakeling; Andrea Whitney; Graham D Pavitt; Sam Griffiths-Jones; Gillian I Rice; Patrick Revy; Marjo S van der Knaap; John H Livingston; Raymond T O'Keefe; Yanick J Crow
Nat Genet
Jenkinson, E M, Rodero, M P, Kasher, P R, Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J, Urquhart, J E, Williams,S G, Bhaskar, S S , O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Baranano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenco, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S , Ounap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H S , Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G D, Griffiths -Jones , S , Rice, G I, Revy, P, van der Knaap, M S , Livingston, J H, O'Keefe, R T & Crow, Y J 2016, 'Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts', Nature Genetics, vol. 48, no. 10, pp. 1185-1192. https://doi.org/10.1038/ng.3661
Jenkinson, E, Rodero, M P, Kasher, P, Uggenti, C, Oojageer, A, Goosey, L, Rose, Y, Urquhart, J, Williams,S , Bhaskar, S S , O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Barañano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenço, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S , Õunap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G, Griffiths -Jones , S , Rice, G, Revy, P, van der Knaap, M S , Livingston, J H, O'Keefe, R, Crow, Y & Kershaw, C 2016, 'Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts', Nature Genetics, vol. 48, no. 10, pp. 1185–1192. https://doi.org/10.1038/ng.3661
Jenkinson, E M, Rodero, M P, Kasher, P R, Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J, Urquhart, J E, Williams,
Jenkinson, E, Rodero, M P, Kasher, P, Uggenti, C, Oojageer, A, Goosey, L, Rose, Y, Urquhart, J, Williams,
Academic Journal
Noor Niyar N, Ladhani; Radha S, Chari; Michael S, Dunn; Griffith, Jones; Prakesh, Shah; Jon F R, Barrett
Journal of Obstetrics and Gynaecology Canada. 39:781-791
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