학술논문
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'학술논문'
에서 검색결과 537건 | 목록
1~20
Academic Journal
Smith, Thomas B. ; Kopajtich, Robert ; Demain, Leigh A.M. ; Rea, Alessandro ; Thomas, Huw B. ; Schiff, Manuel ; Beetz, Christian ; Joss, Shelagh ; Conway, Gerard S. ; Shukla, Anju ; Yeole, Mayuri ; Radhakrishnan, Periyasamy ; Azzouz, Hatem ; Ben Chehida, Amel ; Elmaleh-Bergès, Monique ; Glasgow, Ruth I.C. ; Thompson, Kyle ; Oláhová, Monika ; He, Langping ; Jenkinson, Emma M. ; Jahic, Amir ; Belyantseva, Inna A. ; Barzik, Melanie ; Urquhart, Jill E. ; O’Sullivan, James ; Williams, Simon G. ; Bhaskar, Sanjeev S. ; Carrera, Samantha ; Blakes, Alexander J.M. ; Banka, Siddharth ; Yue, Wyatt W. ; Ellingford, Jamie M. ; Houlden, Henry ; Munro, Kevin J. ; Friedman, Thomas B. ; Taylor, Robert W. ; Prokisch, Holger ; O’Keefe, Raymond T. ; Newman, William G.
In The American Journal of Human Genetics 2 January 2025 112(1):59-74
Academic Journal
Eveline J. Emmenegger; Rebecca A. Lavier; Emily J. Struck; Vasilisa P. Tyurina; Evan A. Eskew; Megan R. Friesen; Mark A. Taylor; Emma K. Bueren; David R. Kyle; Jesse M. Schultz; Allen Pleus; Richard H. Visser; Reed Ojala-Barbour; Christopher D. Anderson; Jeffrey S. Jensen; Martha Keller; Thomas S. Jenkinson; Katherine H. Haman; Tony R. Capps; Kenneth I. Warheit; Timothy Quinn; Justin Bush; Max R. Lambert
Frontiers in Amphibian and Reptile Science, Vol 3 (2025)
Academic Journal
Emma Jenkinson; Ruth A. Hackett; Rona Moss-Morris; Grace Wong; Jon Wheatley; Mirko Cirkovic; Joanna Hudson
BJPsych Open, Vol 11 (2025)
Academic Journal
Gary Abel; Helen Atherton; Jon Sussex; Nurunnahar Akter; Abodunrin Q Aminu; Wiktoria Bak; Carol Bryce; Christopher E Clark; Emma Cockcroft; Hamish Evans; Evangelos Gkousis; Georgia Jenkins; Caroline Jenkinson; Nada Khan; Jeffrey Lambert; Brandi Leach; Christine Marriott; Jennifer Newbould; Sarah Parkinson; Jo Parsons; Emma Pitchforth; Laura Sheard; Stephanie Stockwell; Chloe Thomas; Bethan Treadgold; Rachel Winder; John L Campbell
Health and Social Care Delivery Research, Vol 12, Iss 32 (2024)
Conference
Bozek, Jelena; Fitzgibbon, Sean; Wright, Robert; Rueckert, Daniel; Jenkinson, Mark; Robinson, Emma C.
2016 IEEE 13th International Symposium on Biomedical Imaging (ISBI) Biomedical Imaging (ISBI), 2016 IEEE 13th International Symposium on. :775-778 Apr, 2016
Academic Journal
Chambers, Jemma C.; Yiend, Jenny; Barrett, Barbara; Burns, Tom; Doll, Helen; Fazel, Seena; Jenkinson, Crispin; Kaur, Asha; Knapp, Martin; Plugge, Emma
19 Crim. Behav. & Mental Health 9 (2009) / Criminal Behaviour and Mental Health, Vol. 19, Issue 1 (February 2009), pp. 9-27
Academic Journal
Yanick J Crow; Heather Marshall; Gillian I Rice; Luis Seabra; Emma M Jenkinson; Kristin Baranano; Roberta Battini; Andrea Berger; Edward Blair; Thomas Blauwblomme; Francois Bolduc; Natalie Boddaert; Johannes Buckard; Heather Burnett; Sophie Calvert; Roseline Caumes; Andy Cheuk‐Him Ng; Diana Chiang; David B Clifford; Duccio M Cordelli; Anna de Burca; Natasha Demic; Isabelle Desguerre; Liesbeth De Waele; Alessio Di Fonzo; S. Richard Dunham; Sarah Dyack; Frances Elmslie; Mickaël Ferrand; Gemma Fisher; Ehsan Ghayoor Karimiani; Jamal Ghoumid; Frances Gibbon; Himanshu Goel; Hilde T Hilmarsen; Imelda Hughes; Anu Jacob; Elizabeth A Jones; Ram Kumar; Richard J Leventer; Shelley MacDonald; Reza Maroofian; Sarju G Mehta; Imke Metz; Edoardo Monfrini; Daniela Neumann; Michael Noetzel; Mary O'Driscoll; Katrin Õunap; Axel Panzer; Sumit Parikh; Prab Prabhakar; Francis Ramond; Richard Sandford; Russell Saneto; Calvin Soh; Chloe A Stutterd; Gopinath M Subramanian; Kevin Talbot; Rhys H Thomas; Camilo Toro; Renaud Touraine; Emma Wakeling; Evangeline Wassmer; Andrea Whitney; John H Livingston; Raymond T O'Keefe; Andrew P Badrock
Crow, Y J, Marshall, H, Rice, G I, Seabra, L, Jenkinson , E M, Baranano, K, Battini, R, Berger, A, Blair, E, Blauwblomme, T, Bolduc, F, Boddaert, N, Buckard, J, Burnett, H, Calvert, S, Caumes, R, Ng, A C-H, Chiang, D, Clifford, D B, Cordelli, D M, de Burca, A, Demic, N, Desguerre, I, De Waele, L, Di Fonzo, A, Dunham, S R, Dyack, S, Elmslie, F, Ferrand, M, Fisher, G, Karimiani, E G, Ghoumid, J, Gibbon, F, Goel, H, Hilmarsen, H T, Hughes, I, Jacob, A, Jones, E A, Kumar, R, Leventer, R J, MacDonald, S, Maroofian, R, Mehta, S G, Metz, I, Monfrini, E, Neumann, D, Noetzel, M, O'Driscoll, M, Õunap, K, Panzer, A, Parikh, S, Prabhakar, P, Ramond, F, Sandford, R, Saneto, R, Soh, C, Stutterd, C A, Subramanian, G M, Talbot, K, Thomas, R H, Toro, C, Touraine, R, Wakeling, E, Wassmer, E, Whitney, A, Livingston, J H, O'Keefe, R T & Badrock, A P 2020, 'Leukoencephalopathy with calcifications and cysts : Genetic and phenotypic spectrum', American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.61907
Academic Journal
Knoop, Iris ; Picariello, Federica ; Jenkinson, Emma ; Gall, Nicholas ; Chisari, Claudia ; Moss-Morris, Rona
In Autonomic Neuroscience: Basic and Clinical January 2023 244
Academic Journal
O’Hanlon, Simon J.; Rieux, Adrien; Farrer, Rhys A.; Rosa, Gonçalo M.; Waldman, Bruce; Bataille, Arnaud; Kosch, Tiffany A.; Murray, Kris A.; Brankovics, Balázs; Fumagalli, Matteo; Martin, Michael D.; Wales, Nathan; Alvarado-Rybak, Mario; Bates, Kieran A.; Berger, Lee; Böll, Susanne; Brookes, Lola; Clare, Frances; Courtois, Elodie A.; Cunningham, Andrew A.; Doherty-Bone, Thomas M.; Ghosh, Pria; Gower, David J.; Hintz, William E.; Höglund, Jacob; Jenkinson, Thomas S.; Lin, Chun-Fu; Laurila, Anssi; Loyau, Adeline; Martel, An; Meurling, Sara; Miaud, Claude; Minting, Pete; Pasmans, Frank; Schmeller, Dirk S.; Schmidt, Benedikt R.; Shelton, Jennifer M. G.; Skerratt, Lee F.; Smith, Freya; Soto-Azat, Claudio; Spagnoletti, Matteo; Tessa, Giulia; Toledo, Luís Felipe; Valenzuela-Sánchez, Andrés; Verster, Ruhan; Vörös, Judit; Webb, Rebecca J.; Wierzbicki, Claudia; Wombwell, Emma; Zamudio, Kelly R.; Aanensen, David M.; James, Timothy Y.; Gilbert, M. Thomas P.; Weldon, Ché; Bosch, Jaime; Balloux, François; Garner, Trenton W. J.; Fisher, Matthew C.
Science, 2018 May 01. 360(6389), 621-627.
Academic Journal
Hochberg, Irit; Demain, Leigh A M; Richer, Julie; Thompson, Kyle; Urquhart, Jill E; Rea, Alessandro; Pagarkar, Waheeda; Rodríguez-Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada-Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A; McMillan, Hugh J; Barzik, Melanie; Beaman, Glenda M; Motha, Reeya; Ng, Kah Ying; O'Sullivan, James; Williams, Simon G; Bhaskar, Sanjeev S; Lawrence, Isabella R; Jenkinson, Emma M; Zambonin, Jessica L; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Genomics England Research Consortium; Yue, Wyatt W; Zschocke, Johannes; Munro, Kevin J; Battersby, Brendan J; Friedman, Thomas B; Taylor, Robert W; O'Keefe, Raymond T; Newman, William G
Am J Hum Genet
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
American Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Institut de Recerca Germans Trias i Pujol (IGTP)
Hochberg, I, Demain, L, Richer, J, Thompson, K, Urquhart, J, Rea, A, Pagarkar, W, Rodriguez-Palmero, A, Beaman, G, O'Sullivan, J, Williams, S, Bhaskar, S, O'Keefe, R, Newman, W & Munro, K 2021, 'Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations', American Journal of Human Genetics, vol. 108, no. 11, pp. 2195-2204. https://doi.org/10.1016/j.ajhg.2021.10.002
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
American Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Institut de Recerca Germans Trias i Pujol (IGTP)
Hochberg, I, Demain, L, Richer, J, Thompson, K, Urquhart, J, Rea, A, Pagarkar, W, Rodriguez-Palmero, A, Beaman, G, O'Sullivan, J, Williams, S, Bhaskar, S, O'Keefe, R, Newman, W & Munro, K 2021, 'Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations', American Journal of Human Genetics, vol. 108, no. 11, pp. 2195-2204. https://doi.org/10.1016/j.ajhg.2021.10.002
Academic Journal
Ahmad, Rahail; Alcock, Anastasia; Appelboam, Andrew; Armour, Lisa; Bayreuther, Jane; Beynon, Rhys; Brown, Charlotte; Cadman, Emily; Darlow, Nadine; Davis, Tessa; Gibson, Phoebe; Gilhooley, Colin; Gomes, Sylvester; Gough, Christopher; Hartin, David; Hartshorn, Stuart; Hussan, Temem (Tim); Jain, Neha; Jenkinson, Emma; Johnson, Graham; Kehler, Lisa; Long, Matthew; Lyttle, Mark; Manouchehri, Shahab; McKie, Christopher; Metcalfe, David; Morgans, Louise; Mullen, Niall; Novak, Alex; Nunn, Catherine; O'Hagan, Kath; Paul, Aman; Preston, Jennifer; Ramlakhan, Shammi; Somaskanthan, Aarani; Tan, Yok Weng; Thakker, Manish; Vemulapalli, Krishna; Weekes, Joanna; Westacott, Daniel; Wilson, Sarah; Wood, Darryl; Conner, Louise; Nicolaou, Nicolas; Monsell, Fergal; Perry, Daniel C ; Achten, Juul ; Knight, Ruth ; Appelbe, Duncan ; Dutton, Susan J ; Dritsaki, Melina ; Mason, James M ; Roland, Damian T ; Messahel, Shrouk ; Widnall, James ; Costa, Matthew L
In The Lancet 2-8 July 2022 400(10345):39-47
Academic Journal
Justinas Teiserskas; Rachel Hutchinson; Lisa Szatkowski; Claire Caldwell; Katie Taylor; Emilie Seager; Catherine Longley; Rebecca Smith; Brandy Cox; Cheryl Battersby; Helen Lloyd; Aneurin Young; Deborah Davidson; Jennifer Peterson; Emma Williams; Kirti Gupta; Ahmed Mohamed; Paul Fleming; Tal Oryan; Mia Kahvo; Arameh Aghababaie; Janet Berrington; Michelle Fernandes; Neaha Patel; Jessica Farnan; Allan Jenkinson; Bushra Abdul-Malik; Lucinda Winckworth; Kate Costeloe; Christopher Freeman; Katie Evans; Jasmine Taylor; Mary-Rose Ballard; Rhiannon Jones; Rajkumar Dhandayuthapani; Caroline Fraser; James Stevens; Nuala Calder; Amy Grant; Moataz Badawy; Afza Sadiq; Manohar Joishy; Nathan Collicott; Naseem Sharif; Spandana Rupa Madabhushi; G Natasha; Joe McConville; Rhianna Netherton; Lizaveta Collins; Naomi Lin; Kouros Driscoll; Jonathan Talbot; Rosie Roots; Alison Hopper; Camilla James; Shreesh Bhat; Lauren Ferretti; Niha Peshimam; Benjamin Holter; Sion Glaze; Anna Waghorn; Shweta Dixit; Chibuko Ukeje; Shana Irvine; Fergus Harnden; Christine Lim; Neelakshi Ghosh; Eileen Foster; Swati Jha; Joanna O’Sullivan; Evangelia Myttaraki; Shreya Agrawal; Steve Abbey; Abdulhakim Abdurrazaq; Saud Ahmed; Faith Akano; Muhammad Rehan Akhtar; Oghenetekevwe Patrick Akpofure; Myriam Segovia Almiron; Namita Anand; Jessica Archibald; Harriet Aughey; Lynnlette Aung; Thandi Aung; Pramila Bade; Naomi Bell; Andrada Maria Bianu; Catherine Black; Gennie Booth; Karla Buerano; Chinnu Chandran; Shavin Chellen; Ruth Cousins; Leanne Dearman; Alshaimaa Eldeeb; Teim Eyo; Yasin Fatine; Poppy Flanagan; Abhrajit Giri; Saqib Hasan; Craig Haverstock; Jayne Hillier; Kate Hooper; Zoe Howard; Mais Ismail; Matilda Iverson; Sam Jay; Katie Jenkins; Carla Kantyka; Caroline Kargbo; Almutassem Kazkaz; Shelley Knights; Nikoletta Kottarakou; Carianne Lewis; Carys Mangan; Diane McCarter; Aodhan McGillian; Tasneem Modan; Maria Orford; Salil Pradhan; Patrycja Prusak; Ayesha Rahim; Daniel Ratnaraj; Naveed Shahzad; Adwa Shalabi; Claire Strauss; Jane Sundarsingh; Sumit Thankur; Toby Thenat; Alice Unsworth; Carl Van Heyningen; Elena Raluka Vlad
BMJ Paediatrics Open, Vol 7, Iss 1 (2023)
Academic Journal
Badrock, Andrew P; Uggenti, Carolina; Wacheul, Ludivine; Crilly, Siobhan; Jenkinson, Emma; Rice, Gillian G.I.; Kasher, Paul R; Lafontaine, Denis; Crow, Yanick Joseph; O'Keefe, Raymond T
American journal of human genetics, 106 (5
Badrock, A P, Uggenti, C, Wacheul, L, Crilly, S,Jenkinson , E M, Rice, G I, Kasher, P R, Lafontaine, D L J, Crow, Y J & O'Keefe, R T 2020, ' Analysis of U8 snoRNA Variants in Zebrafish Reveals how Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts ', American Journal of Human Genetics, vol. 106, no. 5, pp. 694-706 . https://doi.org/10.1016/j.ajhg.2020.04.003
Badrock, A, Uggenti, C, Wacheul, L, Crilly, S,Jenkinson , E, Rice, G, Kasher, P, Lafontaine, D, Crow, Y & O'Keefe, R 2020, 'Analysis of U8 snoRNA Variants in Zebrafish Reveals how Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts', American Journal of Human Genetics, vol. 106, no. 5, pp. 694-706. https://doi.org/10.1016/j.ajhg.2020.04.003
Badrock, A P, Uggenti, C, Wacheul, L, Crilly, S,
Badrock, A, Uggenti, C, Wacheul, L, Crilly, S,
Academic Journal
Jones, Annie S. K.; Seaton, Natasha; Brown, Ashley; Jenkinson, Emma; Carroll, Susan; Dietz, Kristina C.; Hudson, Joanna L.; Wroe, Abigail; Moss-Morris, Rona
Academic Journal
Academic Journal
Thorneloe, Rachael Jane; Horne, Rob; Side, Lucy; Wolf, Michael Scott; Smith, Samuel George; Adamson, Vanessa; Ainsworth, Sarah; Akerlund, Malin; Baker, Ivanna; Barwell, Julian; Beesley, Jayne; Brock, Lisa; Butcher, Chrissie; Carpenter, Janice; Clark, Martyn; Cocks, Shirley; Conteh, Veronica; Coulding, Martina; Darby, Sue; Duckworth, Angela; Evans, Gareth; Fensom, Catherine; Fletcher, Julie; Foster, Kate; Grieg, Sara; Gullaksen, Elaine; Gurasashvili, Jana; Hardstaff, Lisa; Hart, Rachel; Hoare, Kathryn; Hoffman, Jonathan; Holcombe, Christopher; Horton, Lynne; Howell, Antony; Islam, Farah; Jenkinson, Emma; Jewers, Karen; Joshi, Manisha; Kirkby, Amy; Kneeshaw, Peter; Knife, Natalie; Kokan, Jalal; Li, Jin; Lunt, Nicola; Macmillan, Douglas; Makinson, Karen; Mallidis, Evangelos; Manyangadze, Sarah; Masvaure, Charity; Mistry, Raksha; Ngumo, Alice; Ooi, Jane; Patel, Ashraf; Pope, Vanessa; Price, Laura; Rabson, Fiona; Richardson, Lisa; Ridgway, Stephanie; Riley, Karen; Roberts, Lorraine; Ryan-Smith, Janet; Salih, Vian; Scott, Nicky; Shere, Mike; Sloan, Andrew; Solanky, Nita; Taylor, Amanda; Thekkinkattil, Dinesh; Thomas, Heather; Thorat, Mangesh; Townley, Barbara; Vaidya, Jayant S; Wagstaff, Lynda; Walsh, Shane; Waring, Lynsey; Watterson, Donna; Westley, Charlotte; Wilkinson, Lesley; Willis, Nicola; Wiseman, Julia
Clin Breast Cancer
ENGAGE Investigators 2019, 'Beliefs About Medication and Uptake of Preventive Therapy in Women at Increased Risk of Breast Cancer : Results From a Multicenter Prospective Study', Clinical Breast Cancer, vol. 19, no. 1, pp. e116-e126. https://doi.org/10.1016/j.clbc.2018.10.008
ENGAGE Investigators 2019, 'Beliefs About Medication and Uptake of Preventive Therapy in Women at Increased Risk of Breast Cancer : Results From a Multicenter Prospective Study', Clinical Breast Cancer, vol. 19, no. 1, pp. e116-e126. https://doi.org/10.1016/j.clbc.2018.10.008
Academic Journal
Helman, Guy; Lajoie, Bryan R.; Crawford, Joanna; Takanohashi, Asako; Walkiewicz, Marzena; Dolzhenko, Egor; Gross, Andrew M.; Gainullin, Vladimir G.; Bent, Stephen J.; Jenkinson, Emma M.; Ferdinandusse, Sacha; Waterham, Hans R.; Dorboz, Imen; Bertini, Enrico; Miyake, Noriko; Wolf, Nicole I.; Abbink, Truus E. M.; Kirwin, Susan M.; Tan, Christina M.; Hobson, Grace M.; Guo, Long; Ikegawa, Shiro; Pizzino, Amy; Schmidt, Johanna L.; Bernard, Genevieve; Schiffmann, Raphael; van der Knaap, Marjo S.; Simons, Cas; Taft, Ryan J.; Vanderver, Adeline
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 144-152 (2020)
Helman, G, Lajoie, B R, Crawford, J, Takanohashi, A, Walkiewicz, M, Dolzhenko, E, Gross, A M, Gainullin, V G, Bent, S J,Jenkinson , E M, Ferdinandusse, S, Waterham, H R, Dorboz, I, Bertini, E, Miyake, N, Wolf, N I, Abbink, T E M, Kirwin, S M, Tan, C M, Hobson, G M, Guo, L, Ikegawa, S, Pizzino, A, Schmidt, J L, Bernard, G, Schiffmann, R, van der Knaap, M S, Simons, C, Taft, R J & Vanderver, A 2020, 'Genome sequencing in persistently unsolved white matter disorders', Annals of Clinical and Translational Neurology, vol. 7, no. 1, pp. 144-152. https://doi.org/10.1002/acn3.50957
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 144-152 (2020)
Helman, G, Lajoie, B R, Crawford, J, Takanohashi, A, Walkiewicz, M, Dolzhenko, E, Gross, A M, Gainullin, V G, Bent, S J,
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[검색어] Jenkinson, Emma
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