학술논문
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'학술논문'
에서 검색결과 468건 | 목록
1~20
Academic Journal
Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian, 1964; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C.; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D.; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H.; Glass, Ian A.; Ward, Scott; Campeau, Philippe M.; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G.; Lupski, James R.; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J.; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G.
Nature Communications. 17(1)
Academic Journal
Stark, Jamie C.; Pipko, Neta; Liang, Yijing; Szuto, Anna; Tsoi, Chung Ting; Dickson, Megan A.; Yuki, Kyoko E.; Hou, Huayun; Scholten, Sydney; Pulsifer, Kenzie; Acker, Meryl; Laver, Meredith; Murthy, Harsha; Moran, Olivia M.; Bonnell, Emily; Liang, Nicole; Sidhu, Jashanpreet; Dupuis, Lucie; Seno, Mohammad M. Ghahramani; Chard, Marisa; Jobling, Rebekah K.; Cameron, Jessie; Chami, Rose; Inbar-Feigenberg, Michal; Wilson, Michael D.; Chitayat, David A.; Boycott, Kym M.; Kyriakopoulou, Lianna; Mendoza-Londono, Roberto; Marshall, Christian R.; Dowling, James J.; Costain, Gregory; Deshwar, Ashish R.
Genome Medicine. 17(1)
Academic Journal
Hou, Huayun; Yuki, Kyoko E.; Costain, Gregory; Szuto, Anna; Barnes, Sierra; Ramani, Arun K.; Celik, Alper; Braga, Michael; Gloven-Brown, Meagan; Stavropoulos, Dimitri J.; Bowdin, Sarah; Cohn, Ronald D.; Mendoza-Londono, Roberto; Scherer, Stephen W.; Brudno, Michael; Marshall, Christian R.; Stephen Meyn, M.; Shlien, Adam; Dowling, James J.; Wilson, Michael D.; Kyriakopoulou, Lianna
npj Genomic Medicine. 10(1)
Academic Journal
Emily R Wener; Sharon L Cushing; Blake C Papsin; Dimitrios J. Stavropoulos; Roberto Mendoza‐Londono; Nada Quercia; Karen A. Gordon
Otolaryngol Head Neck Surg
Academic Journal
Harsha Murthy; Ny Hoang; Jamie C Stark; Sunny Cui; Emanuela Pannia; Chung Ting Tsoi; Simon Harris; C’airah Ceolin; Lauren Verhaeghe; Sydney Scholten; Danielle Baribeau; Jane Summers; Gregory Costain; Thanuja Selvanayagam; Jennifer L Howe; M E Suzanne Lewis; Theresa Brunet; Susanne Rieger; Jill A Rosenfeld; William J Craigen; Lindsay C Burrage; Michelle R Christie; Deborah Baldwin; Ingrid M Wentzensen; Boris Keren; Benjamin Cogne; Bertrand Isidor; Alexandra Afenjar; Reem M Elshafie; Laila Bastaki; Sumaya Alkanderi; Kenneth A Myers; Scott Demarest; Katie Angione; Megan Abbott; Philippe M Campeau; James J Dowling; Roberto Mendoza-Londono; Stephen W Scherer; Ashish R Deshwar; Jacob Vorstman
Brain.
Academic Journal
Aucoin, Susan; Bourque, Liz Sinclair; Braid, Tamara; Bronicki, Lucas; Curtis, Meredith; Elango, Sonny; Hartley, Taila; (Ted) Higginbotham, Edward J.; Hitchcock, Emma; Jobling, Rebekah; Keating, Jennifer; Khan, Reem; Lee, Whiwon; Mackley, Michael; Matviychuk, Diana; Moran, Olivia; McGowan-Jordan, Jean; Pan, Anna; Poirier, Myriam; Price, E. Magda; Pulsifer, Kenzie; Simko, Sean; Schaffer, Audrey; Smith, Brian; Sriretnakumar, Venuja; Sung, Wilson; Zaidi, Syed Hassan; Ungar, Wendy J. ; Wu, Vercancy ; Marshall, Christian R. ; Hwang, Jackie ; Hayeems, Robin Z. ; Tsiplova, Kate ; Gillespie, Meredith K. ; Szuto, Anna ; Chisholm, Caitlin ; Stavropoulos, Dimitri J. ; Venkataramanan, Viji ; Xiao, Bowen ; Costain, Gregory ; Bergeron, Mélanie Beaulieu ; Sawyer, Sarah ; Lau, Lynette ; Huang, Lijia ; Mendoza-Londono, Roberto ; Somerville, Martin J. ; Boycott, Kym M.
In Genetics in Medicine February 2026 28(2)
Academic Journal
Michael P Mackley; Salma Shickh; Whiwon Lee; Abigail Hansen; Katharine Fooks; Lena Dolman; Iskra Peltekova; Taila Hartley; Susan Aucoin; Mélanie Beaulieu Bergeron; Liz Sinclair Bourque; Lucas Bronicki; Caitlin Chisholm; Gregory Costain; Meredith Curtis; Sonny Elango; Meredith K Gillespie; Edward J (Ted) Higginbotham; Emma Hitchcock; Lijia Huang; Jackie Hwang; Olga Jarinova; Rebekah Jobling; Jennifer Keating; Lynette Lau; Christian R Marshall; Diana Matviychuk; Roberto Mendoza-Londono; Olivia Moran; Jean McGowan-Jordan; Anna Pan; Myriam Poirier; E Magda Price; Kenzie Pulsifer; Sarah Sawyer; Sean Simko; Audrey Schaffer; Brian Smith; Venuja Sriretnakumar; Dimitri J Stavropoulos; Wilson Sung; Anna Szuto; Kate Tsiplova; Wendy J Ungar; Viji Venkataramanan; Vercancy Wu; Bowen Xiao; Syed Hassan Zaidi; Cherith Somerville; Martin J Somerville; Kym M Boycott; Robin Z Hayeems
Paediatrics & Child Health.
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;
Academic Journal
Christian R Marshall; Sonya Elango; Salma Shickh; Raymond H Kim; Kym M Boycott; Wendy J Ungar; Jasmin Bhawra; Viji Venkataramanan; Robin Z Hayeems; Gregory Costain; Caitlin Chisholm; Taila Hartley; Roberto Mendoza-Londono; Martin Somerville; Oana Caluseriu; Stacy Hewson; Kaitlin J Stanley; Meredith K Gillespie; Natalie del Signore; Gordon McSheffrey; Sarah L Sawyer; Alexandre White-Brown; Stephanie Telesca
BMJ Open, Vol 15, Iss 8 (2025)
Academic Journal
Neta Pipko; Rachel Youjin Oh; Aiyana Kaplan; Andrea Shugar; Anna Szuto; Miriam Weinstein; Grace Yoon; Roberto Mendoza-Londono; Elena Pope; Ted Young; Christian R Marshall; Gregory Costain; Irene Lara-Corrales; Yiming Wang
British Journal of Dermatology. 192:933-935
Academic Journal
Emily R. Wener; Jacob D. McLennan; Blake C. Papsin; Sharon L. Cushing; Dimitri James Stavropoulos; Roberto Mendoza‐Londono; Nada Quercia; Karen A. Gordon
The Laryngoscope. 134:3832-3838
Academic Journal
Ashish R. Deshwar; Kyoko E. Yuki; Huayun Hou; Yijing Liang; Tayyaba Khan; Alper Celik; Arun Ramani; Roberto Mendoza-Londono; Christian R. Marshall; Michael Brudno; Adam Shlien; M. Stephen Meyn; Robin Z. Hayeems; Brandon J. McKinlay; Panagiota Klentrou; Michael D. Wilson; Lianna Kyriakopoulou; Gregory Costain; James J. Dowling
Am J Hum Genet
Academic Journal
Wendy J. Ungar; Robin Z. Hayeems; Christian R. Marshall; Meredith K. Gillespie; Anna Szuto; Caitlin Chisholm; D. James Stavropoulos; Lijia Huang; Olga Jarinova; Vercancy Wu; Kate Tsiplova; Lynnette Lau; Whiwon Lee; Viji Venkataramanan; Sarah Sawyer; Roberto Mendoza-Londono; Martin J. Somerville; Kym M. Boycott
Clinical Therapeutics. 45:702-709
Academic Journal
Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M.
Molecular Psychiatry. 28(2):668-697
Academic Journal
Oh, Rachel Y. ; AlMail, Ali ; Cheerie, David ; Guirguis, George ; Hou, Huayun ; Yuki, Kyoko E. ; Haque, Bushra ; Thiruvahindrapuram, Bhooma ; Marshall, Christian R. ; Mendoza-Londono, Roberto ; Shlien, Adam ; Kyriakopoulou, Lianna G. ; Walker, Susan ; Dowling, James J. ; Wilson, Michael D. ; Costain, Gregory
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
Huayun Hou; Kyoko E. Yuki; Gregory Costain; Anna Szuto; Sierra Barnes; Arun K. Ramani; Alper Celik; Michael Braga; Meagan Gloven-Brown; Dimitri J. Stavropoulos; Sarah Bowdin; Ronald D Cohn; Roberto Mendoza-Londono; Stephen W. Scherer; Michael Brudno; Christian R. Marshall; M. Stephen Meyn; Adam Shlien; James J. Dowling; Michael D. Wilson; Lianna Kyriakopoulou
NPJ Genom Med
Academic Journal
Priestley, Jessica R.C. ; Deshwar, Ashish R. ; Murthy, Harsha ; D’Agostino, Maria D. ; Dupuis, Lucie ; Gangaram, Balram ; Gray, Christopher ; Jobling, Rebekah ; Pannia, Emanuela ; Platzer, Konrad ; Prescott, Katrina ; Redman, Melody ; Rippert, Alyssa L. ; Rosenfeld, Jill A. ; Scott, Daryl A. ; Wang, Yi W. ; Schmederer, Zelia ; Dalal, Ashwin ; Sarma, Asodu S. ; Skraban, Cara ; Dowling, James J. ; Mendoza-Londono, Roberto ; Slavotinek, Anne ; Bhoj, Elizabeth J.
In Genetics in Medicine August 2023 25(8)
Academic Journal
Boycott, Kym; Brudno, Michael; Bernier, Francois; van Karnebeek, Clara; Dyment, David; Kernohan, Kristin; Innes, Micheil; Lamont, Ryan; Parboosingh, Jillian; Marshall, Deborah; Marshall, Christian; Mendoza, Roberto; Dowling, James; Hayeems, Robin; Knoppers, Bartha; Lehman, Anna; Mostafavi, Sara; Hartley, Taila ; Acker, Meryl ; Fooks, Katharine ; Gillespie, Meredith K. ; Price, E. Magda ; Graham, Ian D. ; White-Brown, Alexandre ; MacKay, Layla ; Macdonald, Stella K. ; Brady, Lauren ; Hui, Angela Y. ; Andrews, Joseph D. ; Chowdhury, Ashfia ; Wall, Erika ; Soubry, Élisabeth ; Ediae, Grace U. ; Rojas, Samantha ; Assamad, Daniel ; Tarnopolsky, Mark ; Sawyer, Sarah L. ; Chisholm, Caitlin ; Lemire, Gabrielle ; Amburgey, Kimberly ; Lazier, Joanna ; Mendoza-Londono, Roberto ; Dowling, James J. ; Balci, Tugce B. ; Armour, Christine M. ; Bhola, Priya T. ; Costain, Gregory ; Dupuis, Lucie ; Carter, Melissa ; Badalato, Lauren ; Richer, Julie ; Boswell-Patterson, Christie ; Kannu, Peter ; Cordeiro, Dawn ; Warman-Chardon, Jodi ; Graham, Gail ; Siu, Victoria Mok ; Cytrynbaum, Cheryl ; Rusnak, Alison ; Aul, Ritu B. ; Yoon, Grace ; Gonorazky, Hernan ; McNiven, Vanda ; Mercimek-Andrews, Saadet ; Guerin, Andrea ; Deshwar, Ashish R. ; Marwaha, Ashish ; Weksberg, Rosanna ; Karp, Natalya ; Campbell, Maggie ; Al-Qattan, Sarah ; Shuen, Andrew Y. ; Inbar-Feigenberg, Michal ; Cohn, Ronald ; Szuto, Anna ; Inglese, Cara ; Poirier, Myriam ; Chad, Lauren ; Potter, Beth ; Boycott, Kym M.
In Genetics in Medicine February 2024 26(2)
Academic Journal
Taila Hartley; Élisabeth Soubry; Meryl Acker; Matthew Osmond; Madeline Couse; Meredith K. Gillespie; Yoko Ito; Aren E. Marshall; Gabrielle Lemire; Lijia Huang; Caitlin Chisholm; Alison J. Eaton; E. Magda Price; James J. Dowling; Arun K. Ramani; Roberto Mendoza‐Londono; Gregory Costain; Michelle M. Axford; Anna Szuto; Vanda McNiven; Nadirah Damseh; Rebekah Jobling; Leanne de Kock; Bahareh A. Mojarad; Ted Young; Zhuo Shao; Robin Z. Hayeems; Ian D. Graham; Mark Tarnopolsky; Lauren Brady; Christine M. Armour; Michael Geraghty; Julie Richer; Sarah Sawyer; Matthew Lines; Saadet Mercimek‐Andrews; Melissa T. Carter; Gail Graham; Peter Kannu; Joanna Lazier; Chumei Li; Ritu B. Aul; Tugce B. Balci; Nomazulu Dlamini; Lauren Badalato; Andrea Guerin; Jagdeep Walia; David Chitayat; Ronald Cohn; Hanna Faghfoury; Cynthia Forster‐Gibson; Hernan Gonorazky; Eyal Grunebaum; Michal Inbar‐Feigenberg; Natalya Karp; Chantal Morel; Alison Rusnak; Neal Sondheimer; Jodi Warman‐Chardon; Priya T. Bhola; Danielle K. Bourque; Inara J. Chacon; Lauren Chad; Pranesh Chakraborty; Karen Chong; Asif Doja; Elaine Suk‐Ying Goh; Maha Saleh; Beth K. Potter; Christian R. Marshall; David A. Dyment; Kristin Kernohan; Kym M. Boycott
Clinical Genetics. 103:288-300
Academic Journal
Shieh, Joseph T. ; Tintos-Hernandez, Jesus A. ; Murali, Chaya N. ; Penon-Portmann, Monica ; Flores-Mendez, Marco ; Santana, Adrian ; Bulos, Joshua A. ; Du, Kang ; Dupuis, Lucie ; Damseh, Nadirah ; Mendoza-Londoño, Roberto ; Berera, Camilla ; Lee, Julieann C. ; Phillips, Joanna J. ; Alves, César A.P.F. ; Dmochowski, Ivan J. ; Ortiz-González, Xilma R.
In Human Genetics and Genomics Advances 12 October 2023 4(4)
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[검색어] Mendoza-Londono, R.
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