학술논문
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'학술논문'
에서 검색결과 10건 | 목록
1~20
Academic Journal
Fabiola Ceroni; Munevver B. Cicekdal; Richard Holt; Elena Sorokina; Nicolas Chassaing; Samuel Clokie; Thomas Naert; Lidiya V. Talbot; Sanaa Muheisen; Dorine A. Bax; Yesim Kesim; Emma C. Kivuva; Catherine Vincent-Delorme; Soeren S. Lienkamp; Julie Plaisancié; Elfride De Baere; Patrick Calvas; Kris Vleminckx; Elena V. Semina; Nicola K. Ragge
Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)
Academic Journal
Alistair T. Pagnamenta; Carme Camps; Edoardo Giacopuzzi; John M. Taylor; Mona Hashim; Eduardo Calpena; Pamela J. Kaisaki; Akiko Hashimoto; Jing Yu; Edward Sanders; Ron Schwessinger; Jim R. Hughes; Gerton Lunter; Helene Dreau; Matteo Ferla; Lukas Lange; Yesim Kesim; Vassilis Ragoussis; Dimitrios V. Vavoulis; Holger Allroggen; Olaf Ansorge; Christian Babbs; Siddharth Banka; Benito Baños-Piñero; David Beeson; Tal Ben-Ami; David L. Bennett; Celeste Bento; Edward Blair; Charlotte Brasch-Andersen; Katherine R. Bull; Holger Cario; Deirdre Cilliers; Valerio Conti; E. Graham Davies; Fatima Dhalla; Beatriz Diez Dacal; Yin Dong; James E. Dunford; Renzo Guerrini; Adrian L. Harris; Jane Hartley; Georg Hollander; Kassim Javaid; Maureen Kane; Deirdre Kelly; Dominic Kelly; Samantha J. L. Knight; Alexandra Y. Kreins; Erika M. Kvikstad; Craig B. Langman; Tracy Lester; Kate E. Lines; Simon R. Lord; Xin Lu; Sahar Mansour; Adnan Manzur; Reza Maroofian; Brian Marsden; Joanne Mason; Simon J. McGowan; Davide Mei; Hana Mlcochova; Yoshiko Murakami; Andrea H. Németh; Steven Okoli; Elizabeth Ormondroyd; Lilian Bomme Ousager; Jacqueline Palace; Smita Y. Patel; Melissa M. Pentony; Chris Pugh; Aboulfazl Rad; Archana Ramesh; Simone G. Riva; Irene Roberts; Noémi Roy; Outi Salminen; Kyleen D. Schilling; Caroline Scott; Arjune Sen; Conrad Smith; Mark Stevenson; Rajesh V. Thakker; Stephen R. F. Twigg; Holm H. Uhlig; Richard van Wijk; Barbara Vona; Steven Wall; Jing Wang; Hugh Watkins; Jaroslav Zak; Anna H. Schuh; Usha Kini; Andrew O. M. Wilkie; Niko Popitsch; Jenny C. Taylor
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
Academic Journal
Yeşim Kesim; Fabiola Ceroni; Alejandra Damián; Fiona Blanco‐Kelly; Carmen Ayuso; Kathy Williamson; Véronique Paquis‐Flucklinger; Dorine A. Bax; Julie Plaisancié; Claudine Rieubland; Mostafa Chamlal; Marta Cortón; Nicolas Chassaing; Patrick Calvas; Nicola Ragge
Eur J Hum Genet
Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K (2023). Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics, 31(10), pp. 1175-1180. Springer Nature 10.1038/s41431-023-01342-8
Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K (2023). Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics, 31(10), pp. 1175-1180. Springer Nature 10.1038/s41431-023-01342-8
Academic Journal
Seda Susgun; Yesim Kesim; Dovlat Khalilov; Nermin Gorkem Sirin; Hasim Gezegen; Baris Salman; Emrah Yucesan; Gulden Gokcay; Huseyin Kutay Korbeyli; Mehmet Cihan Balci; Sibel Aylin Ugur Iseri; Betul Baykan; Nerses Bebek
Neurological Sciences. 44:2527-2540
Academic Journal
Yesim Kesim; Fabiola Ceroni; Alejandra Damián; Fiona Blanco-Kelly; Carmen Ayuso; Kathy Williamson; Véronique Paquis-Flucklinger; Dorine A Bax; Julie Plaisancié; Claudine Rieubland; Mostafa Chamlal; Marta Cortón; Nicolas Chassaing; Patrick Calvas; Nicola K Ragge
Eur J Hum Genet
Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K (2023). Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics, 31(10), pp. 1196-1198. Springer Nature 10.1038/s41431-023-01363-3
Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K (2023). Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics, 31(10), pp. 1196-1198. Springer Nature 10.1038/s41431-023-01363-3
Academic Journal
Sibel Uğur İşeri; Barış Salman; Yeşim Kesim; Seda Süsgün; Güneş Altıokka Uzun; Nermin Görkem; Nerses Bebek; Betül Baykan
Archives of Neuropsychiatry.
Academic Journal
Garen Haryanyan; Ozkan Ozdemir; Kemal Tutkavul; Aysin Dervent; Semih Ayta; Cigdem Ozkara; Baris Salman; Emrah Yucesan; Yesim Kesim; Seda Susgun; Ugur Ozbek; Betul Baykan; Sibel A. Ugur Iseri; Nerses Bebek
Journal of Human Genetics. 66:1145-1151
Academic Journal
Susan Walker; David J. Bunyan; Huw B. Thomas; Yesim Kesim; Christopher J. Kershaw; John Holloway; Htoo Wai; Michael Day; Cassandra L. Smith; Gareth Hawkes; Andrew R. Wood; Michael N. Weedon; Ed Blair; Stephanie L. Curtis; Catherine Fielden; Julie Evans; Rebecca Whittington; Sarah F. Smithson; Helen Cox; Paul Clift; Meriel McEntagart; Matina Prapa; Suzanne Alsters; Deborah Morris-Rosendahl; John Dean; Patrick J. Morrison; Abhijit Dixit; Ajoy Sarkar; Katrina Prescott; Leila Amel Riazat Kesh; Riya Tharakan; Claire Turner; Sian Ellard; Charles Shaw-Smith; James Fasham; Virginia Clowes; Simon Holden; Suresh Somarathi; Catherine Mercer; Ian Berry; Raymond T. O’Keefe; Siddharth Banka; Diana Baralle; N. Simon Thomas; Emma L. Baple; Jenny C. Taylor; Alistair T. Pagnamenta
Walker, S, Bunyan, D J, Thomas, H B, Kesim, Y, Kershaw, C J, Holloway, J, Wai, H, Day, M, Smith, C L, Hawkes, G, Wood, A R, Weedon, M N, Blair, E, Curtis, S L, Fielden, C, Evans, J, Whittington, R, Smithson, S F, Cox, H, Clift, P, McEntagart, M, Prapa, M, Alsters, S, Morris-Rosendahl, D, Dean, J, Morrison, P J, Dixit, A, Sarkar, A, Prescott, K, Riazat Kesh, L A, Tharakan, R, Turner, C, Ellard, S, Shaw-Smith, C, Fasham, J, Clowes, V, Holden, S, Somarathi, S, Mercer, C, Berry, I, O'Keefe, R T, Banka, S, Baralle, D, Thomas, N S, Baple, E L, Taylor, J C & Pagnamenta, A T 2025, 'Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 27, no. 9, 101477. https://doi.org/10.1016/j.gim.2025.101477
Academic Journal
Sibel Aylin Ugur Iseri; Emrah Yucesan; Feyza Nur Tuncer; Mustafa Calik; Yesim Kesim; Gunes Altiokka Uzun; Ugur Ozbek
Journal of Human Genetics. 64:421-426
Academic Journal
Mahmoud Koko; Roland Krause; Thomas Sander; Dheeraj Reddy Bobbili; Michael Nothnagel; Patrick May; Holger Lerche; Yen-Chen Anne Feng; Daniel P Howrigan; Liam E Abbott; Katherine Tashman; Felecia Cerrato; Tarjinder Singh; Henrike Heyne; Andrea Byrnes; Claire Churchhouse; Nick Watts; Matthew Solomonson; Dennis Lal; Erin L Heinzen; Ryan S Dhindsa; Kate E Stanley; Gianpiero L Cavalleri; Hakon Hakonarson; Ingo Helbig; Sarah Weckhuysen; Slavé Petrovski; Sitharthan Kamalakaran; Sanjay M Sisodiya; Patrick Cossette; Chris Cotsapas; Peter DeJonghe; Tracy Dixon-Salazar; Renzo Guerrini; Patrick Kwan; Anthony G Marson; Randy Stewart; Chantal Depondt; Dennis J Dlugos; Ingrid E Scheffer; Pasquale Striano; Catharine Freyer; Kevin McKenna; Brigid M Regan; Susannah T Bellows; Costin Leu; Caitlin A Bennett; Esther M C Johns; Alexandra Macdonald; Hannah Shilling; Rosemary Burgess; Dorien Weckhuysen; Melanie Bahlo; Terence J O'Brien; Marian Todaro; Hannah Stamberger; Danielle M Andrade; Tara R Sadoway; Kelly Mo; Heinz Krestel; Sabina Gallati; Savvas S Papacostas; Ioanna Kousiappa; George A Tanteles; Katalin Štěrbová; Markéta Vlčková; Lucie Sedláčková; Petra Laššuthová; Karl Martin Klein; Felix Rosenow; Philipp S Reif; Susanne Knake; Wolfram S Kunz; Gábor Zsurka; Christian E Elger; Jürgen Bauer; Michael Rademacher; Manuela Pendziwiat; Hiltrud Muhle; Annika Rademacher; Andreas vanBaalen; Sarah vonSpiczak; Ulrich Stephani; Zaid Afawi; Amos D Korczyn; Moien Kanaan; Christina Canavati; Gerhard Kurlemann; Karen Müller-Schlüter; Gerhard Kluger; Martin Häusler; Ilan Blatt; Johannes R Lemke; Ilona Krey; Yvonne G Weber; Stefan Wolking; Felicitas Becker; Christian Hengsbach; Sarah Rau; Ana F Maisch; Bernhard J Steinhoff; Andreas Schulze-Bonhage; Susanne Schubert-Bast; Herbert Schreiber; Ingo Borggräfe; Christoph J Schankin; Thomas Mayer; Rudolf Korinthenberg; Knut Brockmann; Dieter Dennig; Rene Madeleyn; Reetta Kälviäinen; Pia Auvinen; Anni Saarela; Tarja Linnankivi; Anna-Elina Lehesjoki; Mark I Rees; Seo-Kyung Chung; William O Pickrell; Robert Powell; Natascha Schneider; Simona Balestrini; Sara Zagaglia; Vera Braatz; Michael R Johnson; Pauls Auce; Graeme J Sills; Larry W Baum; Pak C Sham; Stacey S Cherny; Colin H T Lui; Nina Barišić; Norman Delanty; Colin P Doherty; Arif Shukralla; Mark McCormack; Hany El-Naggar; Laura Canafoglia; Silvana Franceschetti; Barbara Castellotti; Tiziana Granata; Federico Zara; Michele Iacomino; Francesca Madia; Maria Stella Vari; Maria Margherita Mancardi; Vincenzo Salpietro; Francesca Bisulli; Paolo Tinuper; Laura Licchetta; Tommaso Pippucci; Carlotta Stipa; Raffaella Minardi; Antonio Gambardella; Angelo Labate; Grazia Annesi; Lorella Manna; Monica Gagliardi; Elena Parrini; Davide Mei; Annalisa Vetro; Claudia Bianchini; Martino Montomoli; Viola Doccini; Carla Marini; Toshimitsu Suzuki; Yushi Inoue; Kazuhiro Yamakawa; Birute Tumiene; Lynette G Sadleir; Chontelle King; Emily Mountier; Hande S Caglayan; Mutluay Arslan; Zuhal Yapıcı; Uluc Yis; Pınar Topaloglu; Bulent Kara; Dilsad Turkdogan; Aslı Gundogdu-Eken; Nerses Bebek; Sibel Uğur-İşeri; Betül Baykan; Barış Salman; Garen Haryanyan; Emrah Yücesan; Yeşim Kesim; Çiğdem Özkara; Annapurna Poduri; Beth R Shiedley; Catherine Shain; Russell J Buono; Thomas N Ferraro; Michael R Sperling; Warren Lo; Michael Privitera; Jacqueline A French; Steven Schachter; Ruben I Kuzniecky; Orrin Devinsky; Manu Hegde; Pouya Khankhanian; Katherine L Helbig; Colin A Ellis; Gianfranco Spalletta; Fabrizio Piras; Federica Piras; Tommaso Gili; Valentina Ciullo; Andreas Reif; Andrew McQuillin; Nick Bass; Andrew McIntosh; Douglas Blackwood; Mandy Johnstone; Aarno Palotie; Michele T Pato; Carlos N Pato; Evelyn J Bromet; Celia Barreto Carvalho; Eric D Achtyes; Maria Helena Azevedo; Roman Kotov; Douglas S Lehrer; Dolores Malaspina; Stephen R Marder; Helena Medeiros; Christopher P Morley; Diana O Perkins; Janet L Sobell; Peter F Buckley; Fabio Macciardi; Mark H Rapaport; James A Knowles; Genomic Psychiatry Cohort; Ayman H Fanous; Steven A McCarroll; Namrata Gupta; Stacey B Gabriel; Mark J Daly; Eric S Lander; Daniel H Lowenstein; David B Goldstein; Samuel F Berkovic; Benjamin M Neale
EBioMedicine
Ebiomedicine 72 (2021). doi:10.1016/j.ebiom.2021.103588
info:cnr-pdr/source/autori:Koko M; Krause R; Sander T; Bobbili Dheeraj R; Nothnagel M; May P; Lerche H; Annesi G; EPY25/titolo:Distinct gene-set burden patterns underlie common generalized and focal epilepsies/doi:10.1016%2Fj.ebiom.2021.103588/rivista:Ebiomedicine/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:72
EBioMedicine, Vol 72, Iss, Pp 103588-(2021)
EBioMedicine 72, 103588 (2021). doi:10.1016/j.ebiom.2021.103588
Ebiomedicine 72 (2021). doi:10.1016/j.ebiom.2021.103588
info:cnr-pdr/source/autori:Koko M; Krause R; Sander T; Bobbili Dheeraj R; Nothnagel M; May P; Lerche H; Annesi G; EPY25/titolo:Distinct gene-set burden patterns underlie common generalized and focal epilepsies/doi:10.1016%2Fj.ebiom.2021.103588/rivista:Ebiomedicine/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:72
EBioMedicine, Vol 72, Iss, Pp 103588-(2021)
EBioMedicine 72, 103588 (2021). doi:10.1016/j.ebiom.2021.103588
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[AR] Yesim Kesim
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