학술논문
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'학술논문'
에서 검색결과 51건 | 목록
1~20
Academic Journal
Andrew K. Sobering; Laura M. Bryant; Dong Li; Julie McGaughran; Isabelle Maystadt; Stephanie Moortgat; John M. Graham, Jr.; Arie van Haeringen; Claudia Ruivenkamp; Roos Cuperus; Julie Vogt; Jenny Morton; Charlotte Brasch-Andersen; Maria Steenhof; Lars Kjærsgaard Hansen; Élodie Adler; Stanislas Lyonnet; Veronique Pingault; Marlin Sandrine; Alban Ziegler; Tyhiesia Donald; Beverly Nelson; Brandon Holt; Oleksandra Petryna; Helen Firth; Kirsty McWalter; Jacob Zyskind; Aida Telegrafi; Jane Juusola; Richard Person; Michael J. Bamshad; Dawn Earl; Anne Chun-Hui Tsai; Katherine R. Yearwood; Elysa Marco; Catherine Nowak; Jessica Douglas; Hakon Hakonarson; Elizabeth J. Bhoj
HGG Advances, Vol 4, Iss 1, Pp 100168- (2023)
Academic Journal
Andrew K. Sobering; Laura M. Bryant; Dong Li; Julie McGaughran; Isabelle Maystadt; Stephanie Moortgat; John M. Graham, Jr.; Arie van Haeringen; Claudia Ruivenkamp; Roos Cuperus; Julie Vogt; Jenny Morton; Charlotte Brasch-Andersen; Maria Steenhof; Lars Kjærsgaard Hansen; Élodie Adler; Stanislas Lyonnet; Veronique Pingault; Marlin Sandrine; Alban Ziegler; Tyhiesia Donald; Beverly Nelson; Brandon Holt; Oleksandra Petryna; Helen Firth; Kirsty McWalter; Jacob Zyskind; Aida Telegrafi; Jane Juusola; Richard Person; Michael J. Bamshad; Dawn Earl; Anne Chun-Hui Tsai; Katherine R. Yearwood; Elysa Marco; Catherine Nowak; Jessica Douglas; Hakon Hakonarson; Elizabeth J. Bhoj
HGG Advances, Vol 3, Iss 3, Pp 100102- (2022)
Academic Journal
Malgorzata Drozniewska; Mark D. Kilby; Julie Vogt; Fiona Togneri; Elizabeth Quinlan‐Jones; Lisa Reali; Stephanie Allen; Dominic McMullan
Clinical Case Reports, Vol 8, Iss 3, Pp 508-511 (2020)
Academic Journal
Francesco Vetrini; Shane McKee; Jill A. Rosenfeld; Mohnish Suri; Andrea M. Lewis; Kimberly Margaret Nugent; Elizabeth Roeder; Rebecca O. Littlejohn; Sue Holder; Wenmiao Zhu; Joseph T. Alaimo; Brett Graham; Jill M. Harris; James B. Gibson; Matthew Pastore; Kim L. McBride; Makanko Komara; Lihadh Al-Gazali; Aisha Al Shamsi; Elizabeth A. Fanning; Klaas J. Wierenga; Daryl A. Scott; Ziva Ben-Neriah; Vardiella Meiner; Hanoch Cassuto; Orly Elpeleg; J. Lloyd Holder; Lindsay C. Burrage; Laurie H. Seaver; Lionel Van Maldergem; Sonal Mahida; Janet S. Soul; Margaret Marlatt; Ludmila Matyakhina; Julie Vogt; June-Anne Gold; Soo-Mi Park; Vinod Varghese; Anne K. Lampe; Ajith Kumar; Melissa Lees; Muriel Holder-Espinasse; Vivienne McConnell; Birgitta Bernhard; Ed Blair; Victoria Harrison; The DDD study; Donna M. Muzny; Richard A. Gibbs; Sarah H. Elsea; Jennifer E. Posey; Weimin Bi; Seema Lalani; Fan Xia; Yaping Yang; Christine M. Eng; James R. Lupski; Pengfei Liu
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Academic Journal
Patricia Blanchet; Martina Bebin; Shaam Bruet; Gregory M Cooper; Michelle L Thompson; Benedicte Duban-Bedu; Benedicte Gerard; Amelie Piton; Sylvie Suckno; Charu Deshpande; Virginia Clowes; Julie Vogt; Peter Turnpenny; Michael P Williamson; Yves Alembik; Clinical Sequencing Exploratory Research Study Consortium; Deciphering Developmental Disorders Consortium; Eric Glasgow; Alisdair McNeill
PLoS Genetics, Vol 13, Iss 8, p e1006957 (2017)
Academic Journal
Francesco Vetrini; Shane McKee; Jill A. Rosenfeld; Mohnish Suri; Andrea M. Lewis; Kimberly Margaret Nugent; Elizabeth Roeder; Rebecca O. Littlejohn; Sue Holder; Wenmiao Zhu; Joseph T. Alaimo; Brett Graham; Jill M. Harris; James B. Gibson; Matthew Pastore; Kim L. McBride; Makanko Komara; Lihadh Al-Gazali; Aisha Al Shamsi; Elizabeth A. Fanning; Klaas J. Wierenga; Daryl A. Scott; Ziva Ben-Neriah; Vardiella Meiner; Hanoch Cassuto; Orly Elpeleg; J. Lloyd Holder Jr; Lindsay C. Burrage; Laurie H. Seaver; Lionel Van Maldergem; Sonal Mahida; Janet S. Soul; Margaret Marlatt; Ludmila Matyakhina; Julie Vogt; June-Anne Gold; Soo-Mi Park; Vinod Varghese; Anne K. Lampe; Ajith Kumar; Melissa Lees; Muriel Holder-Espinasse; Vivienne McConnell; Birgitta Bernhard; Ed Blair; Victoria Harrison; The DDD study; Donna M. Muzny; Richard A. Gibbs; Sarah H. Elsea; Jennifer E. Posey; Weimin Bi; Seema Lalani; Fan Xia; Yaping Yang; Christine M. Eng; James R. Lupski; Pengfei Liu
Genome Medicine, Vol 11, Iss 1, Pp 1-2 (2019)
Academic Journal
Elisavet Fotiou; Silvia Martin-Almedina; Michael A. Simpson; Shin Lin; Kristiana Gordon; Glen Brice; Giles Atton; Iona Jeffery; David C. Rees; Cyril Mignot; Julie Vogt; Tessa Homfray; Michael P. Snyder; Stanley G. Rockson; Steve Jeffery; Peter S. Mortimer; Sahar Mansour; Pia Ostergaard
Nature Communications, Vol 10, Iss 1, Pp 1-1 (2019)
Academic Journal
Erina Sasaki; Philip Millington; Taisiia Sazonova; Lucy Hanington; Andrew Parrish; Benito Banos-Pinero; Helen Lord; John Taylor; Ramanand Jeeneea; Charlotte Sherlaw-Sturrock; Amitav Parida; Julie Vogt; Swathi Naik; Mario Sa; Usha Kini
Eur J Hum Genet
Academic Journal
Niccolò E. Mencacci; Georgia Minakaki; Reza Maroofian; Raffaella De Pace; Adeline Paimboeuf; Patrick Shannon; David Chitayat; Francesca Magrinelli; Wesley J. Peng; Diptaman Chatterjee; Sara H. Eldessouky; Julia Baptista; Tamas Marton; Julie Vogt; Juan Dario Ortigoza-Escobar; Loreto Martorell; Marta Gómez-Chiari; Ingrid M Wentzensen; Erik-Jan Kamsteeg; Maha S. Zaki; Annarita Scardamaglia; Giovanni Zifarelli; Zuhair Nasser Al-Hassnan; Elka Miller; Shiri Shinar; Lova S. Matsa; Sri Hari Chandan Appikonda; Michael Schwake; Mariasavina Severino; Henry Houlden; Shunmoogum A. Patten; Juan S. Bonifacino; Kailash P. Bhatia; Dimitri Krainc
medRxiv
Academic Journal
Katherine E. Pendleton; Andres Hernandez-Garcia; Jennifer M. Lyu; Ian M. Campbell; Chad A. Shaw; Julie Vogt; Frances A. High; Patricia K. Donahoe; Wendy K. Chung; Daryl A. Scott
Journal of Pediatric Genetics. 13:029-034
Academic Journal
Alba Sanchis-Juan; Karyn Megy; Jonathan Stephens; Camila Armirola Ricaurte; Eleanor Dewhurst; Kayyi Low; Courtney E French; Detelina Grozeva; Kathleen Stirrups; Marie Erwood; Amy McTague; Christopher J Penkett; Olga Shamardina; Salih Tuna; Louise C. Daugherty; Nicholas Gleadall; Sofia T Duarte; Antonio Hedrera-Fernández; Julie Vogt; Gautam Ambegaonkar; Manali Chitre; Dragana Josifova; Manju A Kurian; Alasdair Parker; Julia Rankin; Evan Reid; Emma Wakeling; Evangeline Wassmer; C Geoffrey Woods; F Lucy Raymond; Keren J Carss
The American Journal of Human Genetics. 110:1343-1355
Academic Journal
Rauan Kaiyrzhanov; Sami E.M. Mohammed; Reza Maroofian; Ralf A. Husain; Alessia Catania; Alessandra Torraco; Ahmad Alahmad; Marina Dutra‐Clarke; Sabine Grønborg; Annapurna Sudarsanam; Julie Vogt; Filippo Arrigoni; Júlia Baptista; Shahzad Haider; René G. Feichtinger; Paolo Bernardi; Alessandra Zulian; Mirjana Gušić; Stéphanie Efthymiou; Renkui Bai; Farah Bibi; Alejandro Horga; Julian A. Martínez‐Agosto; Amanda Lam; Andreea Manole; Diego Pérez‐Rodríguez; Romina Durigon; Angela Pyle; Buthaina Albash; Carlo Dionisi‐Vici; David Murphy; Diego Martinelli; Enrico Bugiardini; Katrina Allis; Costanza Lamperti; Siegfried Reipert; Lotte Risom; Lucia Laugwitz; Michela Di Nottia; Robert McFarland; Laura Vilarinho; Michael G. Hanna; Holger Prokisch; Johannes A. Mayr; Enrico Bertini; Daniele Ghezzi; Elsebet Østergaard; Saskia B. Wortmann; Rosalba Carrozzo; Tobias B. Haack; Robert W. Taylor; Antonella Spinazzola; Karin Nowikovsky; Henry Houlden
Am J Hum Genet
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 109, 9, pp. 1692-1712
Kaiyrzhanov, R, Mohammed, S E M, Maroofian, R, Husain, R A, Catania, A, Torraco, A, Alahmad, A, Dutra-Clarke, M, Grønborg, S, Sudarsanam, A, Vogt, J, Arrigoni, F, Baptista, J, Haider, S, Feichtinger, R G, Bernardi, P, Zulian, A, Gusic, M, Efthymiou, S, Bai, R, Bibi, F, Horga, A, Martinez-Agosto, J A, Lam, A, Manole, A, Rodriguez, D P, Durigon, R, Pyle, A, Albash, B, Dionisi-Vici, C, Murphy, D, Martinelli, D, Bugiardini, E, Allis, K, Lamperti, C, Reipert, S, Risom, L, Laugwitz, L, Di Nottia, M, McFarland, R, Vilarinho, L, Hanna, M, Prokisch, H, Mayr, J A, Bertini, E S, Ghezzi, D, Østergaard, E, Wortmann, S B, Carrozzo, R, Haack, T B, Taylor, R W, Spinazzola, A, Nowikovsky, K & Houlden, H 2022, ' Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement ', American Journal of Human Genetics, vol. 109, no. 9, pp. 1692-1712 . https://doi.org/10.1016/j.ajhg.2022.07.007
Am. J. Hum. Genet. 109, 1692-1712 (2022)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 109, 9, pp. 1692-1712
Kaiyrzhanov, R, Mohammed, S E M, Maroofian, R, Husain, R A, Catania, A, Torraco, A, Alahmad, A, Dutra-Clarke, M, Grønborg, S, Sudarsanam, A, Vogt, J, Arrigoni, F, Baptista, J, Haider, S, Feichtinger, R G, Bernardi, P, Zulian, A, Gusic, M, Efthymiou, S, Bai, R, Bibi, F, Horga, A, Martinez-Agosto, J A, Lam, A, Manole, A, Rodriguez, D P, Durigon, R, Pyle, A, Albash, B, Dionisi-Vici, C, Murphy, D, Martinelli, D, Bugiardini, E, Allis, K, Lamperti, C, Reipert, S, Risom, L, Laugwitz, L, Di Nottia, M, McFarland, R, Vilarinho, L, Hanna, M, Prokisch, H, Mayr, J A, Bertini, E S, Ghezzi, D, Østergaard, E, Wortmann, S B, Carrozzo, R, Haack, T B, Taylor, R W, Spinazzola, A, Nowikovsky, K & Houlden, H 2022, ' Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement ', American Journal of Human Genetics, vol. 109, no. 9, pp. 1692-1712 . https://doi.org/10.1016/j.ajhg.2022.07.007
Am. J. Hum. Genet. 109, 1692-1712 (2022)
Academic Journal
American Journal of Medical Genetics Part A. 188:2790-2795
Academic Journal
Maria Bejerholm Christensen; Amanda M. Levy; Nazanin A. Mohammadi; Marcello Niceta; Rauan Kaiyrzhanov; Maria Lisa Dentici; Chadi Al Alam; Viola Alesi; Valérie Benoît; Kailash P. Bhatia; Tatjana Bierhals; Christian Malte Boßelmann; Julien Buratti; Bert Callewaert; Berten Ceulemans; Perrine Charles; Matthias De Wachter; Mohammadreza Dehghani; Erika D'haenens; Martine Doco‐Fenzy; Michaela Geßner; Cyrielle Gobert; Ulviyya Guliyeva; Tobias B. Haack; Trine Bjørg Hammer; T. Heinrich; Maja Hempel; Theresia Herget; Ute Hoffmann; Judit Horváth; Henry Houlden; Boris Keren; Christina Kresge; Candy Kumps; Damien Lederer; Alban Lermine; Francesca Magrinelli; Reza Maroofian; Mohammad Yahya Vahidi Mehrjardi; Mahdiyeh Moudi; Amelie J. Müller; Anna Oostra; Beth A. Pletcher; David Ros‐Pardo; Shanika Samarasekera; Marco Tartaglia; Kristof Van Schil; Julie Vogt; Evangeline Wassmer; Juliane Winkelmann; Maha S. Zaki; Michael Zech; Holger Lerche; Francesca Clementina Radio; Paulino Gómez‐Puertas; Rikke S. Møller; Zeynep Tümer
Clin Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Clinical genetics
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas, P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165
Clin. Genet. 102, 98-109 (2022)
CLINICAL GENETICS
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Clinical genetics
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas, P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165
Clin. Genet. 102, 98-109 (2022)
CLINICAL GENETICS
Academic Journal
Laura M Watts; David J Bunyan; Edoardo Giacopuzzi; Susan Walker; Gabriella Gazdagh; N Simon Thomas; Volker Straub; Anne-Marie Childs; Joan Forsyth; Julie Vogt; Shagufta Khan; Tracey A Willis; Jenny C Taylor; Alistair T Pagnamenta
Brain Commun
Academic Journal
Wen-Qiang Zheng; Signe Vandal Pedersen; Kyle Thompson; Emanuele Bellacchio; Courtney E French; Benjamin Munro; Toni S Pearson; Julie Vogt; Daria Diodato; Tue Diemer; Anja Ernst; Rita Horvath; Manali Chitre; Jakob Ek; Flemming Wibrand; Dorothy K Grange; Lucy Raymond; Xiao-Long Zhou; Robert W Taylor; Elsebet Ostergaard
Zheng, W-Q, Pedersen, S V, Thompson, K, Bellacchio, E, French, C E, Munro, B, Pearson, T S, Vogt, J, Diodato, D, Diemer, T, Ernst, A, Horvath, R, Chitre, M, Ek, J, Wibrand, F, Grange, D K, Raymond, L, Zhou, X-L, Taylor, R W & Ostergaard, E 2022, 'Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease', Human Molecular Genetics, vol. 31, no. 4, pp. 523-534. https://doi.org/10.1093/hmg/ddab257
Academic Journal
Schaida Schirwani; Shadi Albaba; Deanna Alexis Carere; Maria J. Guillen Sacoto; Francisca Milan Zamora; Yue Si; Rachel Rabin; John Pappas; Deborah L. Renaud; Natalie Hauser; Evan Reid; Patricia Blanchet; Nichola Foulds; Abhijit Dixit; Richard Fisher; Ruth Armstrong; Bertrand Isidor; Benjamin Cogne; Samantha Schrier Vergano; Serwet Demirdas; Natalie Dykzeul; Julie S. Cohen; Katheryn Grand; Dayna Morel; Anne Slavotinek; Hessa F. Albassam; Swati Naik; John Dean; Nicola Ragge; Cinzia Costa; Maria Giovanna Tedesco; Rachel E. Harrison; Arjan Bouman; Emily Palen; Thomas D. Challman; Marjolein H. Willemsen; Julie Vogt; Christopher Cunniff; Katherine Bergstrom; Jagdeep S. Walia; Ange‐Line Bruel; Usha Kini; Fowzan S. Alkuraya; Valerie Slegesky; Naomi Meeks; Paula Girotto; Diana Johnson; Ruth Newbury‐Ecob; Charlotte W. Ockeloen; Paolo Prontera; Sally Ann Lynch; Dong Li; John M. Graham; Tyler Mark Pierson; Meena Balasubramanian
American Journal of Medical Genetics. Part A, 185, 11, pp. 3446-3458
Academic Journal
Wenshu XiangWei; Riley E. Perszyk; Nana Liu; Yuchen Xu; Subhrajit Bhattacharya; Gil H. Shaulsky; Constance Smith-Hicks; Ali Fatemi; Andrew E. Fry; Kate Chandler; Tao Wang; Julie Vogt; Julie S. Cohen; Alex R. Paciorkowski; Annapurna Poduri; Yuehua Zhang; Shuang Wang; Yuping Wang; Qiongxiang Zhai; Fang Fang; Jie Leng; Kathryn Garber; Scott J. Myers; Robin-Tobias Jauss; Kristen L. Park; Timothy A. Benke; Johannes R. Lemke; Hongjie Yuan; Yuwu Jiang; Stephen F. Traynelis
Cellular and Molecular Life Sciences. 80
Academic Journal
Joanna Kaplanis; Kaitlin E. Samocha; Laurens Wiel; Zhancheng Zhang; Kevin J. Arvai; Ruth Y. Eberhardt; Giuseppe Gallone; Stefan H. Lelieveld; Hilary C. Martin; Jeremy F. McRae; Patrick J. Short; Rebecca I. Torene; Elke de Boer; Petr Danecek; Eugene J. Gardner; Ni Huang; Jenny Lord; Iñigo Martincorena; Rolph Pfundt; Margot R. F. Reijnders; Alison Yeung; Helger G. Yntema; Silvia Borras; Caroline Clark; John Dean; Zosia Miedzybrodzka; Alison Ross; Stephen Tennant; Tabib Dabir; Deirdre Donnelly; Mervyn Humphreys; Alex Magee; Vivienne McConnell; Shane McKee; Susan McNerlan; Patrick J. Morrison; Gillian Rea; Fiona Stewart; Trevor Cole; Nicola Cooper; Lisa Cooper-Charles; Helen Cox; Lily Islam; Joanna Jarvis; Rebecca Keelagher; Derek Lim; Dominic McMullan; Jenny Morton; Swati Naik; Mary O’Driscoll; Kai-Ren Ong; Deborah Osio; Nicola Ragge; Sarah Turton; Julie Vogt; Denise Williams; Simon Bodek; Alan Donaldson; Alison Hills; Karen Low; Ruth Newbury-Ecob; Andrew M. Norman; Eileen Roberts; Ingrid Scurr; Sarah Smithson; Madeleine Tooley; Steve Abbs; Ruth Armstrong; Carolyn Dunn; Simon Holden; Soo-Mi Park; Joan Paterson; Lucy Raymond; Evan Reid; Richard Sandford; Ingrid Simonic; Marc Tischkowitz; Geoff Woods; Lisa Bradley; Joanne Comerford; Andrew Green; Sally Lynch; Shirley McQuaid; Brendan Mullaney; Jonathan Berg; David Goudie; Eleni Mavrak; Joanne McLean; Catherine McWilliam; Eleanor Reavey; Tara Azam; Elaine Cleary; Andrew Jackson; Wayne Lam; Anne Lampe; David Moore; Mary Porteous; Emma Baple; Júlia Baptista; Carole Brewer; Bruce Castle; Emma Kivuva; Martina Owens; Julia Rankin; Charles Shaw-Smith; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Therese Bradley; Rosemarie Davidson; Carol Gardiner; Shelagh Joss; Esther Kinning; Cheryl Longman; Ruth McGowan; Victoria Murday; Daniela Pilz; Edward Tobias; Margo Whiteford; Nicola Williams; Angela Barnicoat; Emma Clement; Francesca Faravelli; Jane Hurst; Lucy Jenkins; Wendy Jones; V. K. Ajith Kumar; Melissa Lees; Sam Loughlin; Alison Male; Deborah Morrogh; Elisabeth Rosser; Richard Scott; Louise Wilson; Ana Beleza; Charu Deshpande; Frances Flinter; Muriel Holder; Melita Irving; Louise Izatt; Dragana Josifova; Shehla Mohammed; Aneta Molenda; Leema Robert; Wendy Roworth; Deborah Ruddy; Mina Ryten; Shu Yau; Christopher Bennett; Moira Blyth; Jennifer Campbell; Andrea Coates; Angus Dobbie; Sarah Hewitt; Emma Hobson; Eilidh Jackson; Rosalyn Jewell; Alison Kraus; Katrina Prescott; Eamonn Sheridan; Jenny Thomson; Kirsty Bradshaw; Abhijit Dixit; Jacqueline Eason; Rebecca Haines; Rachel Harrison; Stacey Mutch; Ajoy Sarkar; Claire Searle; Nora Shannon; Abid Sharif; Mohnish Suri; Pradeep Vasudevan; Natalie Canham; Ian Ellis; Lynn Greenhalgh; Emma Howard; Victoria Stinton; Andrew Swale; Astrid Weber; Siddharth Banka; Catherine Breen; Tracy Briggs; Emma Burkitt-Wright; Kate Chandler; Jill Clayton-Smith; Dian Donnai; Sofia Douzgou; Lorraine Gaunt; Elizabeth Jones; Bronwyn Kerr; Claire Langley; Kay Metcalfe; Audrey Smith; Ronnie Wright; David Bourn; John Burn; Richard Fisher; Steve Hellens; Alex Henderson; Tara Montgomery; Miranda Splitt; Volker Straub; Michael Wright; Simon Zwolinski; Zoe Allen; Birgitta Bernhard; Angela Brady; Claire Brooks; Louise Busby; Virginia Clowes; Neeti Ghali; Susan Holder; Rita Ibitoye; Emma Wakeling; Edward Blair; Jenny Carmichael; Deirdre Cilliers; Susan Clasper; Richard Gibbons; Usha Kini; Tracy Lester; Andrea Nemeth; Joanna Poulton; Sue Price; Debbie Shears; Helen Stewart; Andrew Wilkie; Shadi Albaba; Duncan Baker; Meena Balasubramanian; Diana Johnson; Michael Parker; Oliver Quarrell; Alison Stewart; Josh Willoughby; Charlene Crosby; Frances Elmslie; Tessa Homfray; Huilin Jin; Nayana Lahiri; Sahar Mansour; Karen Marks; Meriel McEntagart; Anand Saggar; Kate Tatton-Brown; Rachel Butler; Angus Clarke; Sian Corrin; Andrew Fry; Arveen Kamath; Emma McCann; Hood Mugalaasi; Caroline Pottinger; Annie Procter; Julian Sampson; Francis Sansbury; Vinod Varghese; Diana Baralle; Alison Callaway; Emma J. Cassidy; Stacey Daniels; Andrew Douglas; Nicola Foulds; David Hunt; Mira Kharbanda; Katherine Lachlan; Catherine Mercer; Lucy Side; I. Karen Temple; Diana Wellesley; Lisenka E. L. M. Vissers; Jane Juusola; Caroline F. Wright; Han G. Brunner; Helen V. Firth; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles; Christian Gilissen; Kyle Retterer
Nature
Nature, 586, 7831, pp. 757-762
Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de, B E & Retterer, K 2020, ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ', Nature, vol. 586, no. 7831, pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5
Nature, 586, 7831, pp. 757-762
Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de, B E & Retterer, K 2020, ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ', Nature, vol. 586, no. 7831, pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5
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