학술논문
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공정이용 지침
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위반 시 제재
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'학술논문'
에서 검색결과 17건 | 목록
1~20
Academic Journal
Jacqueline E. Taudien; Diana Bracht; Heike Olbrich; Sebastian Swirski; Fulvio D’Abrusco; Bert Van der Zwaag; Maike Möller; Thomas Lücke; Norbert Teig; Ulrika Lindberg; Kai Wohlgemuth; Julia Wallmeier; Anja Blanque; Christos Gatsogiannis; Sebastian George; Christoph Jüschke; Marta Owczarek-Lipska; Dorothee Veer; Hester Y. Kroes; Enza Maria Valente; G. Christoph Korenke; Heymut Omran; John Neidhardt
iScience, Vol 28, Iss 2, Pp 111670- (2025)
Academic Journal
Liselot van der Laan; Ananília Silva; Lotte Kleinendorst; Kathleen Rooney; Sadegheh Haghshenas; Peter Lauffer; Yasemin Alanay; Pratibha Bhai; Alfredo Brusco; Sonja de Munnik; Bert B.A. de Vries; Angelica Delgado Vega; Marc Engelen; Johanna C. Herkert; Ron Hochstenbach; Saskia Hopman; Sarina G. Kant; Ryutaro Kira; Mitsuhiro Kato; Boris Keren; Hester Y. Kroes; Michael A. Levy; Ngu Lock-Hock; Saskia M. Maas; Grazia M.S. Mancini; Carlo Marcelis; Naomichi Matsumoto; Takeshi Mizuguchi; Alessandro Mussa; Cyril Mignot; Anu Närhi; Ann Nordgren; Rolph Pfundt; Abeltje M. Polstra; Slavica Trajkova; Yolande van Bever; Marie José van den Boogaard; Jasper J. van der Smagt; Tahsin Stefan Barakat; Mariëlle Alders; Marcel M.A.M. Mannens; Bekim Sadikovic; Mieke M. van Haelst; Peter Henneman
HGG Advances, Vol 6, Iss 1, Pp 100380- (2025)
Academic Journal
Lonneke Haer-Wigman; Amber den Ouden; Maria M. van Genderen; Hester Y. Kroes; Joke Verheij; Dzenita Smailhodzic; Attje S. Hoekstra; Raymon Vijzelaar; Jan Blom; Ronny Derks; Menno Tjon-Pon-Fong; Helger G. Yntema; Marcel R. Nelen; Lisenka E.L.M. Vissers; Dorien Lugtenberg; Kornelia Neveling
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
Academic Journal
Janine Reurink; Nicole Weisschuh; Alejandro Garanto; Adrian Dockery; L. Ingeborgh van den Born; Isabelle Fajardy; Lonneke Haer-Wigman; Susanne Kohl; Bernd Wissinger; G. Jane Farrar; Tamar Ben-Yosef; Fatma Kivrak Pfiffner; Wolfgang Berger; Marianna E. Weener; Lubica Dudakova; Petra Liskova; Dror Sharon; Manar Salameh; Ashley Offenheim; Elise Heon; Giorgia Girotto; Paolo Gasparini; Anna Morgan; Arthur A. Bergen; Jacoline B. ten Brink; Caroline C.W. Klaver; Lisbeth Tranebjærg; Nanna D. Rendtorff; Sascha Vermeer; Jeroen J. Smits; Ronald J.E. Pennings; Marco Aben; Jaap Oostrik; Galuh D.N. Astuti; Jordi Corominas Galbany; Hester Y. Kroes; Milan Phan; Wendy A.G. van Zelst-Stams; Alberta A.H.J. Thiadens; Joke B.G.M. Verheij; Mary J. van Schooneveld; Suzanne E. de Bruijn; Catherina H.Z. Li; Carel B. Hoyng; Christian Gilissen; Lisenka E.L.M. Vissers; Frans P.M. Cremers; Hannie Kremer; Erwin van Wijk; Susanne Roosing
HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)
Academic Journal
Clinical Case Reports, Vol 10, Iss 4, Pp n/a-n/a (2022)
Academic Journal
Irene Vázquez-Domínguez; Lonneke Duijkers; Zeinab Fadaie; Eef C. W. Alaerds; Merel A. Post; Edwin M. van Oosten; Luke O’Gorman; Michael Kwint; Louet Koolen; Anita D. M. Hoogendoorn; Hester Y. Kroes; Christian Gilissen; Frans P. M. Cremers; Rob W. J. Collin; Susanne Roosing; Alejandro Garanto
Cells, Vol 11, Iss 22, p 3640 (2022)
Academic Journal
Kohji Kato; Yosuke Nishio; Kirsty J. McMillan; Aljazi Al-Maraghi; Hester Y. Kroes; Mohamed S. Abdel-Hamid; Emma Jones; Shrestha Shaw; Aya Yoshida; Shiomi Otsuji; Yuka Murofushi; Waleed Aamer; Ajaz A. Bhat; Jehan AlRayahi; Ammira S. Al-Shabeeb Akil; Elbay Aliyev; Ellen van Binsbergen; Etienne J. Janssen; Kazi Mahnaz Mehrin; Hisashi Oishi; Ryosuke Kobayashi; Takuro Horii; Izuho Hatada; Akihiko Saito; Mitsuharu Hattori; Yoshihiko Kawano; Philip A. Lewis; Kate J. Heesom; Takeshi Takarada; Kazunobu Sawamoto; Masaki Matsushita; Tomoo Ogi; Rebeka Butkovic; Chris Danson; Kevin A. Wilkinson; Khalid A. Fakhro; Maha S. Zaki; Shinji Saitoh; Peter J. Cullen
Kato, K, Nishio, Y, McMillan, K J, Al-Maraghi, A, Kroes, H Y, Abdel-Hamid, M S, Jones, E, Shaw, S, Yoshida, A, Otsuji, S, Murofushi, Y, Aamer, W, Bhat, A A, AlRayahi, J, Al-Shabeeb Akil, A S, Aliyev, E, van Binsbergen, E, Janssen, E J, Mehrin, K M, Oishi, H, Kobayashi, R, Horii, T, Hatada, I, Saito, A, Hattori, M, Kawano, Y, Lewis, P A, Heesom, K J, Takarada, T, Sawamoto, K, Matsushita, M, Ogi, T, Butkovic, R, Danson, C, Wilkinson, K A, Fakhro, K A, Zaki, M S, Saitoh, S & Cullen, P J 2025, 'Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy', Science Translational Medicine, vol. 17, no. 805, eadt2426. https://doi.org/10.1126/scitranslmed.adt2426
Academic Journal
Dana E. Layo-Carris; Emily E. Lubin; Annabel K. Sangree; Kelly J. Clark; Emily L. Durham; Elizabeth M. Gonzalez; Sarina Smith; Rajesh Angireddy; Xiao Min Wang; Erin Weiss; Annick Toutain; Roberto Mendoza-Londono; Lucie Dupuis; Nadirah Damseh; Danita Velasco; Irene Valenzuela; Marta Codina-Solà; Catherine Ziats; Jaclyn Have; Katie Clarkson; Dora Steel; Manju Kurian; Katy Barwick; Diana Carrasco; Aditi I. Dagli; M. J. M. Nowaczyk; Miroslava Hančárová; Šárka Bendová; Darina Prchalova; Zdeněk Sedláček; Alica Baxová; Catherine Bearce Nowak; Jessica Douglas; Wendy K. Chung; Nicola Longo; Konrad Platzer; Chiara Klöckner; Luisa Averdunk; Dagmar Wieczorek; Ilona Krey; Christiane Zweier; Andre Reis; Tugce Balci; Marleen Simon; Hester Y. Kroes; Antje Wiesener; Georgia Vasileiou; Nikolaos M. Marinakis; Danai Veltra; Christalena Sofocleous; Konstantina Kosma; Joanne Traeger Synodinos; Konstantinos A. Voudris; Marie-Laure Vuillaume; Paul Gueguen; Nicolas Derive; Estelle Colin; Clarisse Battault; Billie Au; Martin Delatycki; Mathew Wallis; Lyndon Gallacher; Fatma Majdoub; Noor Smal; Sarah Weckhuysen; An-Sofie Schoonjans; R. Frank Kooy; Marije Meuwissen; Benjamin T. Cocanougher; Kathryn Taylor; Carolyn E. Pizoli; Marie T. McDonald; Philip James; Elizabeth R. Roeder; Rebecca Littlejohn; Nicholas A. Borja; Willa Thorson; Kristine King; Radka Stoeva; Manon Suerink; Esther Nibbeling; Stephanie Baskin; Gwenaël L. E. Guyader; Julie Kaplan; Candace Muss; Deanna Alexis Carere; Elizabeth J. K. Bhoj; Laura M. Bryant
Eur J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1
Academic Journal
Manuela Morleo; Rossella Venditti; Evangelos Theodorou; Lauren C. Briere; Marion Rosello; Alfonsina Tirozzi; Roberta Tammaro; Nour Al-Badri; Frances A. High; Jiahai Shi; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; AudreyStephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips III; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L.M. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner; Vincenzo Nigro; Annalaura Torella; Carmine Spampanato; Michele Pinelli; Sandro Banfi; Alessandra Varavallo; Angelo Selicorni; Milena Mariani; Marta Massimello; Cecilia Daolio; Valeria Capra; Andrea Accogli; Marcello Scala; Vincenzo Leuzzi; Francesca Nardecchia; Serena Galosi; Mario Mastrangelo; Donatella Milani; Giuseppina Vitiello; Giulio Piluso; Corrado Romano; Pinella Failla; Donatella Greco; Chiara Pantaleoni; Claudia Ciaccio; Stefano D’Arrigo; Nicola Brunetti Pierri; Giancarlo Parenti; Antonietta Coppola; Teresa Mattina; Marcella Zollino; Simona Amenta; Albina Tummolo; Claudia Santoro; Anna Grandone; Daniele De Brasi; Antonio Varone; Livia Garavelli; Carla Marini; Stefania Bigoni; Carmelo Piscopo; Antonio Trabacca; Marta De Rinaldis; Angela Peron; Elena Putti; Luigi Ferrante; Viviana Cetrangolo; Melissa A. Walker; Romano Tenconi; Maria Iascone; Davide Mei; Renzo Guerrini; Jasper van der Smagt; Hester Y. Kroes; Koen L.I. van Gassen; Muhammad Bilal; Muhammad Umair; Veronica Pingault; Tania Attie-Bitach; Jeannine Amiel; Resham Ejaz; Lance Rodan; Pankaj B. Agrawal; Filippo Del Bene; Brunella Franco
American Journal of Human Genetics
Academic Journal
Esmee H. Runhart; Patty Dhooge; Magda Meester‐Smoor; Jeroen Pas; Jan Willem R. Pott; Redmer van Leeuwen; Hester Y. Kroes; Arthur A. Bergen; Yvonne de Jong‐Hesse; Alberta A. Thiadens; Mary J. van Schooneveld; Maria van Genderen; Camiel Boon; Caroline Klaver; L. Ingeborg van den Born; Frans P. M. Cremers; Carel B. Hoyng
Acta Ophthalmol
Acta Ophthalmologica (2008), 100, 4, pp. 395-402
Acta Ophthalmologica (2008), 100, 4, pp. 395-402
Academic Journal
Dana E. Layo-Carris; Emily E. Lubin; Annabel K. Sangree; Kelly J. Clark; Emily L. Durham; Elizabeth M. Gonzalez; Sarina Smith; Rajesh Angireddy; Xiao Min Wang; Erin Weiss; Annick Toutain; Roberto Mendoza-Londono; Lucie Dupuis; Nadirah Damseh; Danita Velasco; Irene Valenzuela; Marta Codina-Solà; Catherine Ziats; Jaclyn Have; Katie Clarkson; Dora Steel; Manju Kurian; Katy Barwick; Diana Carrasco; Aditi I. Dagli; M. J. M. Nowaczyk; Miroslava Hančárová; Šárka Bendová; Darina Prchalova; Zdeněk Sedláček; Alica Baxová; Catherine Bearce Nowak; Jessica Douglas; Wendy K. Chung; Nicola Longo; Konrad Platzer; Chiara Klöckner; Luisa Averdunk; Dagmar Wieczorek; Ilona Krey; Christiane Zweier; Andre Reis; Tugce Balci; Marleen Simon; Hester Y. Kroes; Antje Wiesener; Georgia Vasileiou; Nikolaos M. Marinakis; Danai Veltra; Christalena Sofocleous; Konstantina Kosma; Joanne Traeger Synodinos; Konstantinos A. Voudris; Marie-Laure Vuillaume; Paul Gueguen; Nicolas Derive; Estelle Colin; Clarisse Battault; Billie Au; Martin Delatycki; Mathew Wallis; Lyndon Gallacher; Fatma Majdoub; Noor Smal; Sarah Weckhuysen; An-Sofie Schoonjans; R. Frank Kooy; Marije Meuwissen; Benjamin T. Cocanougher; Kathryn Taylor; Carolyn E. Pizoli; Marie T. McDonald; Philip James; Elizabeth R. Roeder; Rebecca Littlejohn; Nicholas A. Borja; Willa Thorson; Kristine King; Radka Stoeva; Manon Suerink; Esther Nibbeling; Stephanie Baskin; Gwenaël L. E. Guyader; Julie Kaplan; Candace Muss; Deanna Alexis Carere; Elizabeth J. K. Bhoj; Laura M. Bryant
Eur J Hum Genet
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; ... (2024). Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), p. 1032. Springer Nature 10.1038/s41431-024-01659-y
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; ... (2024). Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), p. 1032. Springer Nature 10.1038/s41431-024-01659-y
Academic Journal
Anne H. O’Donnell-Luria; Lynn S. Pais; Víctor Faundes; Jordan C. Wood; Abigail Sveden; Victor Luria; Rami Abou Jamra; Andrea Accogli; Kimberly Amburgey; Britt Marie Anderlid; Silvia Azzarello-Burri; Alice A. Basinger; Claudia Bianchini; Lynne M. Bird; Rebecca Buchert; Wilfrid Carre; Sophia Ceulemans; Perrine Charles; Helen Cox; Lisa Culliton; Aurora Currò; Florence Demurger; James J. Dowling; Benedicte Duban-Bedu; Christèle Dubourg; Saga Elise Eiset; Luis F. Escobar; Alessandra Ferrarini; Tobias B. Haack; Mona Hashim; Solveig Heide; Katherine L. Helbig; Ingo Helbig; Raul Heredia; Delphine Héron; Bertrand Isidor; Amy R. Jonasson; Pascal Joset; Boris Keren; Fernando Kok; Hester Y. Kroes; Alinoë Lavillaureix; Xin Lu; Saskia M. Maas; Gustavo H.B. Maegawa; Carlo L.M. Marcelis; Paul R. Mark; Marcelo R. Masruha; Heather M. McLaughlin; Kirsty McWalter; Esther U. Melchinger; Saadet Mercimek-Andrews; Caroline Nava; Manuela Pendziwiat; Richard Person; Gian Paolo Ramelli; Luiza L.P. Ramos; Anita Rauch; Caitlin Reavey; Alessandra Renieri; Angelika Rieß; Amarilis Sanchez-Valle; Shifteh Sattar; Carol Saunders; Niklas Schwarz; Thomas Smol; Myriam Srour; Katharina Steindl; Steffen Syrbe; Jenny C. Taylor; Aida Telegrafi; Isabelle Thiffault; Doris A. Trauner; Helio van der Linden; Silvana van Koningsbruggen; Laurent Villard; Ida Vogel; Julie Vogt; Yvonne G. Weber; Ingrid M. Wentzensen; Elysa Widjaja; Jaroslav Zak; Samantha Baxter; Siddharth Banka; Lance H. Rodan; Jeremy F. McRae; Stephen Clayton; Tomas W. Fitzgerald; Joanna Kaplanis; Elena Prigmore; Diana Rajan; Alejandro Sifrim; Stuart Aitken; Nadia Akawi; Mohsan Alvi; Kirsty Ambridge; Daniel M. Barrett; Tanya Bayzetinova; Philip Jones; Wendy D. Jones; Daniel King; Netravathi Krishnappa; Laura E. Mason; Tarjinder Singh; Adrian R. Tivey; Munaza Ahmed; Uruj Anjum; Hayley Archer; Ruth Armstrong; Jana Awada; Meena Balasubramanian; Diana Baralle; Angela Barnicoat; Paul Batstone; David Baty; Chris Bennett; Jonathan Berg; Birgitta Bernhard; A. Paul Bevan; Maria Bitner-Glindzicz; Edward Blair; Moira Blyth; David Bohanna; Louise Bourdon; David Bourn; Lisa Bradley; Angela Brady; Simon Brent; Carole Brewer; Kate Brunstrom; David J. Bunyan; John Burn; Natalie Canham; Bruce Castle; Kate Chandler; Elena Chatzimichali; Deirdre Cilliers; Angus Clarke; Susan Clasper; Jill Clayton-Smith; Virginia Clowes; Andrea Coates; Trevor Cole; Irina Colgiu; Amanda Collins; Morag N. Collinson; Fiona Connell; Nicola Cooper; Lara Cresswell; Gareth Cross; Yanick Crow; Mariella D’Alessandro; Tabib Dabir; Rosemarie Davidson; Sally Davies; Dylan de Vries; John Dean; Charu Deshpande; Gemma Devlin; Abhijit Dixit; Angus Dobbie; Alan Donaldson; Dian Donnai; Deirdre Donnelly; Carina Donnelly; Angela Douglas; Sofia Douzgou; Alexis Duncan; Jacqueline Eason; Sian Ellard; Ian Ellis; Frances Elmslie; Karenza Evans; Sarah Everest; Tina Fendick; Richard Fisher; Frances Flinter; Nicola Foulds; Andrew Fry; Alan Fryer; Carol Gardiner; Lorraine Gaunt; Neeti Ghali; Richard Gibbons; Harinder Gill; Judith Goodship; David Goudie; Emma Gray; Andrew Green; Philip Greene; Lynn Greenhalgh; Susan Gribble; Rachel Harrison; Lucy Harrison; Victoria Harrison; Rose Hawkins; Liu He; Stephen Hellens; Alex Henderson; Sarah Hewitt; Lucy Hildyard; Emma Hobson; Simon Holden; Muriel Holder; Susan Holder; Georgina Hollingsworth; Tessa Homfray; Mervyn Humphreys; Jane Hurst; Ben Hutton; Stuart Ingram; Melita Irving; Lily Islam; Andrew Jackson; Joanna Jarvis; Lucy Jenkins; Diana Johnson; Elizabeth Jones; Dragana Josifova; Shelagh Joss; Beckie Kaemba; Sandra Kazembe; Rosemary Kelsell; Bronwyn Kerr; Helen Kingston; Usha Kini; Esther Kinning; Gail Kirby; Claire Kirk; Emma Kivuva; Alison Kraus; Dhavendra Kumar; V. K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Shane McKee; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Jenny Morton; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Ruth Newbury-Ecob; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Michael J. Parker; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. Pilz; Martin Pollard; Caroline Pottinger; Joanna Poulton; Norman Pratt; Katrina Prescott; Sue Price; Abigail Pridham; Annie Procter; Hellen Purnell; Oliver Quarrell; Nicola Ragge; Raheleh Rahbari; Josh Randall; Julia Rankin; Lucy Raymond; Debbie Rice; Leema Robert; Eileen Roberts; Jonathan Roberts; Paul Roberts; Gillian Roberts; Alison Ross; Elisabeth Rosser; Anand Saggar; Shalaka Samant; Julian Sampson; Richard Sandford; Ajoy Sarkar; Susann Schweiger; Richard Scott; Ingrid Scurr; Ann Selby; Anneke Seller; Cheryl Sequeira; Nora Shannon; Saba Sharif; Charles Shaw-Smith; Emma Shearing; Debbie Shears; Eamonn Sheridan; Ingrid Simonic; Roldan Singzon; Zara Skitt; Audrey Smith; Kath Smith; Sarah Smithson; Linda Sneddon; Miranda Splitt; Miranda Squires; Fiona Stewart; Helen Stewart; Volker Straub; Mohnish Suri; Vivienne Sutton; Ganesh Jawahar Swaminathan; Elizabeth Sweeney; Kate Tatton-Brown; Cat Taylor; Rohan Taylor; Mark Tein; I. Karen Temple; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles
American Journal of Human Genetics, 104, 6, pp. 1210-1222
Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019 'Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy' BioRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/566091
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019 'Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy' BioRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/566091
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Academic Journal
Rosalind Verheije; Gabriel S. Kupchik; Bertrand Isidor; Hester Y. Kroes; Sally Ann Lynch; Lara Hawkes; Maja Hempel; Bruce D. Gelb; Jamal Ghoumid; Guylaine D’Amours; Kate Chandler; Christèle Dubourg; Sara Loddo; Zeynep Tümer; Charles Shaw-Smith; Mathilde Nizon; Michael Shevell; Evelien Van Hoof; Kwame Anyane-Yeboa; Gaetana Cerbone; Jill Clayton-Smith; Benjamin Cogné; Pierre Corre; Anniek Corveleyn; Marie De Borre; Tina Duelund Hjortshøj; Mélanie Fradin; Marc Gewillig; Elizabeth Goldmuntz; Greet Hens; Emmanuelle Lemyre; Hubert Journel; Usha Kini; Fanny Kortüm; Cedric Le Caignec; Antonio Novelli; Sylvie Odent; Florence Petit; Anya Revah-Politi; Nicholas Stong; Tim M. Strom; Ellen van Binsbergen; Koenraad Devriendt; Jeroen Breckpot
European journal of human genetics : EJHG
United States
United Kingdom
England
Verheije, R, Kupchik, G S, Isidor, B, Kroes, H Y, Lynch, S A, Hawkes, L, Hempel, M, Gelb, B D, Ghoumid, J, D’amours, G, Chandler, K, Dubourg, C, Loddo, S, Tümer, Z, Shaw-smith, C, Nizon, M, Shevell, M, Van Hoof, E, Anyane-yeboa, K, Cerbone, G, Clayton-smith, J, Cogné, B, Corre, P, Corveleyn, A, De Borre, M, Hjortshøj, T D, Fradin, M, Gewillig, M, Goldmuntz, E, Hens, G, Lemyre, E, Journel, H, Kini, U, Kortüm, F, Le Caignec, C, Novelli, A, Odent, S, Petit, F, Revah-politi, A, Stong, N, Strom, T M, Van Binsbergen, E, Devriendt, K & Breckpot, J 2019, 'Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability', European Journal of Human Genetics, vol. 27, no. 2, pp. 278-290. https://doi.org/10.1038/s41431-018-0281-5
United States
United Kingdom
England
Verheije, R, Kupchik, G S, Isidor, B, Kroes, H Y, Lynch, S A, Hawkes, L, Hempel, M, Gelb, B D, Ghoumid, J, D’amours, G, Chandler, K, Dubourg, C, Loddo, S, Tümer, Z, Shaw-smith, C, Nizon, M, Shevell, M, Van Hoof, E, Anyane-yeboa, K, Cerbone, G, Clayton-smith, J, Cogné, B, Corre, P, Corveleyn, A, De Borre, M, Hjortshøj, T D, Fradin, M, Gewillig, M, Goldmuntz, E, Hens, G, Lemyre, E, Journel, H, Kini, U, Kortüm, F, Le Caignec, C, Novelli, A, Odent, S, Petit, F, Revah-politi, A, Stong, N, Strom, T M, Van Binsbergen, E, Devriendt, K & Breckpot, J 2019, 'Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability', European Journal of Human Genetics, vol. 27, no. 2, pp. 278-290. https://doi.org/10.1038/s41431-018-0281-5
Academic Journal
Parisa Hemati; Anya Revah‐Politi; Haim Bassan; Slavé Petrovski; Colleen G. Bilancia; Keri Ramsey; Nicole G. Griffin; Louise Bier; Megan T. Cho; Monica Rosello; Sally Ann Lynch; Sophie Colombo; Astrid Weber; Marte Haug; Erin L. Heinzen; Tristan T. Sands; Vinodh Narayanan; Michelle Primiano; Vimla S. Aggarwal; Francisca Millan; Shannon G. Sattler‐Holtrop; Alfonso Caro‐Llopis; Nir Pillar; Janice Baker; Rebecca Freedman; Hester Y. Kroes; Stephanie Sacharow; Nick Stong; Pablo Lapunzina; Michael C. Schneider; Nancy J. Mendelsohn; Amanda Singleton; Valerie Loik Ramey; Karen Wou; Alla Kuzminsky; Sandra Monfort; Monika Weisz Hubshman; Samantha Doyle; Alejandro Iglesias; Francisco Martinez; Fiona Mckenzie; Carmen Orellana; Koen L.I. van Gassen; Maria Palomares; Lily Bazak; Andy Lee; Ana Bircher; Lina Basel‐Vanagaite; Maria Hafström; Gunnar Houge; David B. Goldstein; Kwame Anyane‐Yeboa
American Journal of Medical Genetics Part A. 176:2259-2275
Academic Journal
Marijn F. Stokman; Bert van der Zwaag; Nicole C. A. J. van de Kar; Mieke M. van Haelst; Albertien M. van Eerde; Joost W. van der Heijden; Hester Y. Kroes; Elly Ippel; Annelien J. A. Schulp; Koen L. van Gassen; Iris A. L. M. van Rooij; Rachel H. Giles; Philip L. Beales; Ronald Roepman; Heleen H. Arts; Ernie M. H. F. Bongers; Kirsten Y. Renkema; Nine V. A. M. Knoers; Jeroen van Reeuwijk; Marc R. Lilien
Pediatr Nephrol
Stokman, M F, van der Zwaag, B, van de Kar, N C A J, van Haelst, M M, van Eerde, A M, van der Heijden, J W, Kroes, H Y, Ippel, E, Schulp, A J A, van Gassen, K L, van Rooij, I A L M, Giles, R H, Beales, P L, Roepman, R, Arts, H H, Bongers, E M H F, Renkema, K Y, Knoers, N V A M, van Reeuwijk, J & Lilien, M R 2018, 'Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy', Pediatric Nephrology, vol. 33, no. 10, pp. 1701-1712. https://doi.org/10.1007/s00467-018-3958-7, https://doi.org/10.1007/s00467-018-3958-7
Pediatric Nephrology, 33, 10, pp. 1701-1712
Stokman, M F, van der Zwaag, B, van de Kar, N C A J, van Haelst, M M, van Eerde, A M, van der Heijden, J W, Kroes, H Y, Ippel, E, Schulp, A J A, van Gassen, K L, van Rooij, I A L M, Giles, R H, Beales, P L, Roepman, R, Arts, H H, Bongers, E M H F, Renkema, K Y, Knoers, N V A M, van Reeuwijk, J & Lilien, M R 2018, 'Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy', Pediatric Nephrology, vol. 33, no. 10, pp. 1701-1712. https://doi.org/10.1007/s00467-018-3958-7, https://doi.org/10.1007/s00467-018-3958-7
Pediatric Nephrology, 33, 10, pp. 1701-1712
Academic Journal
Tim Van Damme; Alain Colige; Delfien Syx; Cecilia Giunta; Uschi Lindert; Marianne Rohrbach; Omid Aryani; Yasemin Alanay; Pelin Özlem Simsek-Kiper; Hester Y. Kroes; Koen Devriendt; Marc Thiry; Sofie Symoens; Anne De Paepe; Fransiska Malfait
Genetics in Medicine. 18:882-891
Academic Journal
Glen R. Monroe; Gerardus W. Frederix; Sanne M.C. Savelberg; Tamar I. de Vries; Karen J. Duran; Jasper J. van der Smagt; Paulien A. Terhal; Peter M. van Hasselt; Hester Y. Kroes; Nanda M. Verhoeven-Duif; Isaäc J. Nijman; Ellen C. Carbo; Koen L. van Gassen; Nine V. Knoers; Anke M. Hövels; Mieke M. van Haelst; Gepke Visser; Gijs van Haaften
Monroe, G R, Frederix, G W, Savelberg, S M C, de Vries, T I, Duran, K J, van der Smagt, J J, Terhal, P A, van Hasselt, P M, Kroes, H Y, Verhoeven-Duif, N M, Nijman, I J, Carbo, E C, van Gassen, K L, Knoers, N V, Hövels, A M, van Haelst, M M, Visser, G & van Haaften, G 2016, 'Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability', Genetics in Medicine, vol. 18, no. 9, pp. 949-56. https://doi.org/10.1038/gim.2015.200
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