학술논문
전자자료 공정이용 안내
우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
전자자료의 비정상적 이용은 출판사로부터의 경고, 서비스 차단, 손해배상 청구 등 학교 전체에 심각한 불이익을 초래할 수 있으므로, 아래의 공정이용 지침을 반드시 준수해 주시기 바랍니다.
공정이용 지침
- 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
- 합리적인 수준의 다운로드 및 출력만 허용됩니다. (일반적으로 동일 PC에서 동일 출판사의 논문을 1일 30건 이하 다운로드할 것을 권장하며, 출판사별 기준에 따라 다를 수 있습니다.)
- 출판사에서 제공한 논문의 URL을 수업 관련 웹사이트에 게재할 수 있으나, 출판사 원문 파일 자체를 복제·배포해서는 안 됩니다.
- 본인의 ID/PW를 타인에게 제공하지 말고, 도용되지 않도록 철저히 관리해 주시기 바랍니다.
불공정 이용 사례
- 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
- 동일 컴퓨터 또는 동일 IP에서 단시간 내 다수의 원문을 집중적으로 다운로드하거나, 전권(whole issue) 다운로드
- 저장·출력한 자료를 타인에게 배포하거나 개인 블로그·웹하드 등에 업로드
- 상업적·영리적 목적으로 자료를 전송·복제·활용
- ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
- EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
- 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
- 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
- 출판사 배상 요구 시 위반자 개인이 배상 책임 부담
'학술논문'
에서 검색결과 40건 | 목록
1~20
Academic Journal
Listy klinicke logopedie, Vol 9, Iss 1, Pp 43-53 (2025)
Academic Journal
The Egyptian Journal of Otolaryngology, Vol 40, Iss 1, Pp 1-6 (2024)
Academic Journal
Martin Schwarz; Jan Geryk; Markéta Havlovicová; Michaela Mihulová; Marek Turnovec; Lukáš Ryba; Júlia Martinková; Milan Macek; Richard Palmer; Karolína Kočandrlová; Jana Velemínská; Veronika Moslerová
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Academic Journal
Adam Jackson; Sheng-Jia Lin; Elizabeth A. Jones; Kate E. Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D. Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Gaurav K. Varshney; Siddharth Banka; J.C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C.R. Boustred; H. Brittain; M.A. Brown; M.J. Caulfield; G.C. Chan; A. Giess; J.N. Griffin; A. Hamblin; S. Henderson; T.J.P. Hubbard; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; P. O‘Donovan; C.A. Odhams; C. Patch; D. Perez-Gil; M.B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; S.C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A.L. Taylor Tavares; E.R.A. Thomas; S.R. Thompson; A. Tucci; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki; Olaf Riess; Tobias B. Haack; Holm Graessner; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M. Schulze-Hentrich; Rebecca Schüle; Christoph Kessler; Melanie Wayand; Matthis Synofzik; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Nicoline Hoogerbrugge; Alexander Hoischen; Peter A.C. ’t Hoen; Lisenka E.L.M. Vissers; Christian Gilissen; Wouter Steyaert; Karolis Sablauskas; Richarda M. de Voer; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Anthony J. Brookes; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Ana Töpf; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Elizabeth Alexander; Laurence Faivre; Christel Thauvin; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Sergi Beltran; Ivo Glynne Gut; Steven Laurie; Davide Piscia; Leslie Matalonga; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Gulcin Gumus; Virginie Bros-Facer; Ana Rath; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot-Noel; Anna Heinzmann; Giulia Coarelli; Gisèle Bonne; Teresinha Evangelista; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek, Jr.; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Dylan Spalding; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira; Fátima Carneiro; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs-Prins; Sebastian Köhler; Alison Metcalfe; Alain Verloes; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé-Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski-Feder; Andreas Laner; Verena Steinke-Lange; Evelin Schröck; Andreas Rump
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Academic Journal
Tianyun Wang; Kendra Hoekzema; Davide Vecchio; Huidan Wu; Arvis Sulovari; Bradley P. Coe; Madelyn A. Gillentine; Amy B. Wilfert; Luis A. Perez-Jurado; Malin Kvarnung; Yoeri Sleyp; Rachel K. Earl; Jill A. Rosenfeld; Madeleine R. Geisheker; Lin Han; Bing Du; Chris Barnett; Elizabeth Thompson; Marie Shaw; Renee Carroll; Kathryn Friend; Rachael Catford; Elizabeth E. Palmer; Xiaobing Zou; Jianjun Ou; Honghui Li; Hui Guo; Jennifer Gerdts; Emanuela Avola; Giuseppe Calabrese; Maurizio Elia; Donatella Greco; Anna Lindstrand; Ann Nordgren; Britt-Marie Anderlid; Geert Vandeweyer; Anke Van Dijck; Nathalie Van der Aa; Brooke McKenna; Miroslava Hancarova; Sarka Bendova; Marketa Havlovicova; Giovanni Malerba; Bernardo Dalla Bernardina; Pierandrea Muglia; Arie van Haeringen; Mariette J. V. Hoffer; Barbara Franke; Gerarda Cappuccio; Martin Delatycki; Paul J. Lockhart; Melanie A. Manning; Pengfei Liu; Ingrid E. Scheffer; Nicola Brunetti-Pierri; Nanda Rommelse; David G. Amaral; Gijs W. E. Santen; Elisabetta Trabetti; Zdeněk Sedláček; Jacob J. Michaelson; Karen Pierce; Eric Courchesne; R. Frank Kooy; The SPARK Consortium; Magnus Nordenskjöld; Corrado Romano; Hilde Peeters; Raphael A. Bernier; Jozef Gecz; Kun Xia; Evan E. Eichler
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Academic Journal
Michael Smith; Elizabeth Alexander; Ruta Marcinkute; Dorica Dan; Myfanwy Rawson; Siddharth Banka; Jason Gavin; Hany Mina; Con Hennessy; Florence Riccardi; Francesca Clementina Radio; Marketa Havlovicova; Matteo Cassina; Adela Chirita Emandi; Melanie Fradin; Lianne Gompertz; Ann Nordgren; Rasa Traberg; Massimiliano Rossi; Aurelién Trimouille; Rasika Sowmyalakshmi; Bruno Dallapiccola; Alessandra Renieri; Laurence Faivre; Bronwyn Kerr; Alain Verloes; Jill Clayton-Smith; Sofia Douzgou; on behalf of ERN ITHACA
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Academic Journal
Darina Prchalova; Marketa Havlovicova; Katalin Sterbova; Viktor Stranecky; Miroslava Hancarova; Zdenek Sedlacek
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)
Academic Journal
Susan M Hiatt; Matthew B Neu; Ryne C Ramaker; Andrew A Hardigan; Jeremy W Prokop; Miroslava Hancarova; Darina Prchalova; Marketa Havlovicova; Jan Prchal; Viktor Stranecky; Dwight K C Yim; Zöe Powis; Boris Keren; Caroline Nava; Cyril Mignot; Marlene Rio; Anya Revah-Politi; Parisa Hemati; Nicholas Stong; Alejandro D Iglesias; Sharon F Suchy; Rebecca Willaert; Ingrid M Wentzensen; Patricia G Wheeler; Lauren Brick; Mariya Kozenko; Anna C E Hurst; James W Wheless; Yves Lacassie; Richard M Myers; Gregory S Barsh; Zdenek Sedlacek; Gregory M Cooper
PLoS Genetics, Vol 14, Iss 11, p e1007671 (2018)
Academic Journal
Tianyun Wang; Kendra Hoekzema; Davide Vecchio; Huidan Wu; Arvis Sulovari; Bradley P. Coe; Madelyn A. Gillentine; Amy B. Wilfert; Luis A. Perez-Jurado; Malin Kvarnung; Yoeri Sleyp; Rachel K. Earl; Jill A. Rosenfeld; Madeleine R. Geisheker; Lin Han; Bing Du; Chris Barnett; Elizabeth Thompson; Marie Shaw; Renee Carroll; Kathryn Friend; Rachael Catford; Elizabeth E. Palmer; Xiaobing Zou; Jianjun Ou; Honghui Li; Hui Guo; Jennifer Gerdts; Emanuela Avola; Giuseppe Calabrese; Maurizio Elia; Donatella Greco; Anna Lindstrand; Ann Nordgren; Britt-Marie Anderlid; Geert Vandeweyer; Anke Van Dijck; Nathalie Van der Aa; Brooke McKenna; Miroslava Hancarova; Sarka Bendova; Marketa Havlovicova; Giovanni Malerba; Bernardo Dalla Bernardina; Pierandrea Muglia; Arie van Haeringen; Mariette J. V. Hoffer; Barbara Franke; Gerarda Cappuccio; Martin Delatycki; Paul J. Lockhart; Melanie A. Manning; Pengfei Liu; Ingrid E. Scheffer; Nicola Brunetti-Pierri; Nanda Rommelse; David G. Amaral; Gijs W. E. Santen; Elisabetta Trabetti; Zdeněk Sedláček; Jacob J. Michaelson; Karen Pierce; Eric Courchesne; R. Frank Kooy; The SPARK Consortium; Magnus Nordenskjöld; Corrado Romano; Hilde Peeters; Raphael A. Bernier; Jozef Gecz; Kun Xia; Evan E. Eichler
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
Academic Journal
Jan Geryk; Daniel Krsička; Markéta Vlčková; Markéta Havlovicová; Milan Macek; Radka Kremlíková Pourová
Metabolites, Vol 10, Iss 5, p 184 (2020)
Academic Journal
Tatjana Dostalova; Eliášová Hana; Markéta Havlovicová; Karolína Kočandrlová; Milan Macek; Adam Nocar; Petra Hliňáková
Journal of Craniofacial Surgery. 36:3064-3070
Academic Journal
Petra Poláčková; Jiří Borovec; Jana Vašáková; Matěj Patzelt; Wanda Urbanová; Michaela Mihulová; Milan Macek; Markéta Havlovicová; Veronika Moslerová
Orthodontics & Craniofacial Research. 27:917-927
Academic Journal
German Demidov; Steven Laurie; Annalaura Torella; Giulio Piluso; Marcello Scala; Manuela Morleo; Vincenzo Nigro; Holm Graessner; Siddharth Banka; Alfons Macaya; Belén Pérez-Dueñas; Adam Jackson; Giovanni Stevanin; Jean-Madeleine de Sainte Agathe; Markéta Havlovicová; Rita Horvath; Michele Pinelli; Nienke J. H. van Os; Bart P. C. van de Warrenburg; Anne-Sophie Denommé-Pichon; Marco Savarese; Mridul Johari; Bruno Dallapiccola; Marco Tartaglia; Martje G. Pauly; Anna Katharina Sommer; Tobias B. Haack; Ana Töpf; Lacombe Didier; Chiara Fallerini; Alessandra Renieri; Patrick F. Chinnery; Daniel Natera-de Benito; Andres Nascimento; Aurélien Trimouille; Francina Munell; Anna Marcé-Grau; Ben Yaou Rabah; Gisèle Bonne; Liedewei Van de Vondel; Katja Lohmann; Stephan Ossowski
Solve-RD consortium 2025, 'Correction : Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes', European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-025-01841-w
Academic Journal
Demidov, German; Laurie, Steven; Torella, Annalaura; Piluso, Giulio; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Graessner, Holm; Banka; Solve-RD consortium; Siddharth; Lohmann, Katja; Ossowski Stephan; Solve-RD consortium: Alfons Macaya; Belén Pérez-Dueñas; Adam Jackson; Giovanni Stevanin; Jean-Madeleine de Sainte Agathe; Markéta Havlovicová; Rita Horvath; Michele Pinelli; Nienke J H van Os; Bart P C van de Warrenburg; Anne-Sophie Denommé-Pichon; Marco Savarese; Mridul Johari; Bruno Dallapiccola; Marco Tartaglia; Martje G Pauly; Anna Katharina Sommer; Tobias B Haack; Ana Töpf; Lacombe Didier; Chiara Fallerini; Alessandra Renieri; Patrick F Chinnery; Daniel Natera-de Benito; Andres Nascimento; Aurélien Trimouille; Francina Munell; Anna Marcé-Grau; Ben Yaou Rabah; Gisèle Bonne; Liedewei Van de Vondel
Eur J Hum Genet
Demidov, G, Laurie, S, Torella, A, Piluso, G, Scala, M, Morleo, M, Nigro, V, Graessner, H, Banka, S, Macaya, A, Pérez-Dueñas, B, Jackson, A, Stevanin, G, Agathe, J-M D S, Havlovicová, M, Horvath, R, Pinelli, M, Os, N J H V, Warrenburg, B P C V D, Denommé-Pichon, A-S, Savarese, M, Johari, M, Dallapiccola, B, Tartaglia, M, Pauly, M G, Sommer, A K, Haack, T B, Töpf, A, Didier, L, Fallerini, C, Renieri, A, Chinnery, P F, Benito, D N, Nascimento, A, Trimouille, A, Munell, F, Marcé-Grau, A, Rabah, B Y, Bonne, G, Vondel, L V D, Lohmann, K & Ossowski, S 2024, 'Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes', European Journal of Human Genetics, vol. 32, no. 8, pp. 998-1004. https://doi.org/10.1038/s41431-024-01637-4
Demidov, G, Laurie, S, Torella, A, Piluso, G, Scala, M, Morleo, M, Nigro, V, Graessner, H, Banka, S, Macaya, A, Pérez-Dueñas, B, Jackson, A, Stevanin, G, Agathe, J-M D S, Havlovicová, M, Horvath, R, Pinelli, M, Os, N J H V, Warrenburg, B P C V D, Denommé-Pichon, A-S, Savarese, M, Johari, M, Dallapiccola, B, Tartaglia, M, Pauly, M G, Sommer, A K, Haack, T B, Töpf, A, Didier, L, Fallerini, C, Renieri, A, Chinnery, P F, Benito, D N, Nascimento, A, Trimouille, A, Munell, F, Marcé-Grau, A, Rabah, B Y, Bonne, G, Vondel, L V D, Lohmann, K & Ossowski, S 2024, 'Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes', European Journal of Human Genetics, vol. 32, no. 8, pp. 998-1004. https://doi.org/10.1038/s41431-024-01637-4
Academic Journal
Alessia Costa; Věra Franková; Glenn Robert; Milan Macek; Christine Patch; Elizabeth Alexander; Anna Arellanesova; Jill Clayton‑Smith; Amy Hunter; Markéta Havlovicová; Radka Pourová; Marie Pritchard; Lauren Roberts; Veronika Zoubková; Alison Metcalfe
J Community Genet
Academic Journal
Alessia Costa; Věra Franková; Glenn Robert; Milan Macek; Christine Patch; Elizabeth Alexander; Anna Arellanesova; Jill Clayton-Smith; Amy Hunter; Markéta Havlovicová; Radka Pourová; Marie Pritchard; Lauren Roberts; Veronika Zoubková; Alison Metcalfe
J Community Genet
Franková, V, Costa, A, Robert, G, Macek, M, Patch, C, Alexander, E, Arellanesová, A, Clayton-Smith, J, Hunter, A, Havlovicová, M, Pourová, R, Pritchard, M, Roberts, L, Zouboková, V & Metcalfe, A 2022, ' Co-designing models for the communication of genomic results for rare diseases : a comparative study in the Czech Republic and the United Kingdom ', Journal of Community Genetics, vol. 13, no. 3, pp. 313-327 . https://doi.org/10.1007/s12687-022-00589-w
Journal of Community Genetics
Franková, V, Costa, A, Robert, G, Macek, M, Patch, C, Alexander, E, Arellanesová, A, Clayton-Smith, J, Hunter, A, Havlovicová, M, Pourová, R, Pritchard, M, Roberts, L, Zouboková, V & Metcalfe, A 2022, ' Co-designing models for the communication of genomic results for rare diseases : a comparative study in the Czech Republic and the United Kingdom ', Journal of Community Genetics, vol. 13, no. 3, pp. 313-327 . https://doi.org/10.1007/s12687-022-00589-w
Journal of Community Genetics
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease
Academic Journal
Martin Schwarz; Matej Gazdarica; Eva Froňková; Michael Svatoň; Jiří Bronský; Markéta Havlovicová; Anna Křepelová; Milan Macek jr
Molecular Biology Reports. 51
Academic Journal
Martin Schwarz; Lukáš Ryba; Anna Křepelová; Veronika Moslerová; Michaela Zelinová; Marek Turnovec; Júlia Martinková; Lenka Kratochvílová; Martin Drahanský; Milan Macek; Markéta Havlovicová
American Journal of Medical Genetics Part A. 188:1083-1087
Academic Journal
Birte Zurek; Kornelia Ellwanger; Lisenka E. L. M. Vissers; Rebecca Schüle; Matthis Synofzik; Ana Töpf; Richarda M. de Voer; Steven Laurie; Leslie Matalonga; Christian Gilissen; Stephan Ossowski; Peter A. C. ’t Hoen; Antonio Vitobello; Julia M. Schulze-Hentrich; Olaf Riess; Han G. Brunner; Anthony J. Brookes; Ana Rath; Gisèle Bonne; Gulcin Gumus; Alain Verloes; Nicoline Hoogerbrugge; Teresinha Evangelista; Tina Harmuth; Morris Swertz; Dylan Spalding; Alexander Hoischen; Sergi Beltran; Holm Graessner; Tobias B. Haack; German Demidov; Marc Sturm; Christoph Kessler; Melanie Wayand; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Wouter Steyaert; Karolis Sablauskas; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Siddharth Banka; Elizabeth Alexander; Adam Jackson; Laurence Faivre; Christel Thauvin; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Ivo Glynne Gut; Davide Piscia; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Virginie Bros-Facer; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot-Noel; Anna Heinzmann; Giulia Coarelli; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira; Fátima Carneiro; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs-Prins; Sebastian Köhler; Alison Metcalfe; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé-Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski-Feder; Andreas Laner; Verena Steinke-Lange; Evelin Schröck; Andreas Rump
Eur J Hum Genet
European Journal of Human Genetics
European journal of human genetics 29(9), 1325-1331 (2021). doi:10.1038/s41431-021-00859-0
European Journal of Human Genetics, 29, 9, pp. 1325-1331
Solve-RD consortium 2021, 'Solve-RD : systematic pan-European data sharing and collaborative analysis to solve rare diseases', European Journal of Human Genetics, vol. 29, no. 9, pp. 1325-1331. https://doi.org/10.1038/s41431-021-00859-0
European Journal of Human Genetics
European journal of human genetics 29(9), 1325-1331 (2021). doi:10.1038/s41431-021-00859-0
European Journal of Human Genetics, 29, 9, pp. 1325-1331
Solve-RD consortium 2021, 'Solve-RD : systematic pan-European data sharing and collaborative analysis to solve rare diseases', European Journal of Human Genetics, vol. 29, no. 9, pp. 1325-1331. https://doi.org/10.1038/s41431-021-00859-0
검색 결과 제한하기
제한된 항목
[AR] Marketa Havlovicova
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어