학술논문
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'학술논문'
에서 검색결과 269건 | 목록
1~20
Academic Journal
Hormos Salimi Dafsari; Celine Deneubourg; Kritarth Singh; Reza Maroofian; Zita Suprenant; Ay Lin Kho; Neil J Ingham; Karen P Steel; Preethi Sheshadri; Franciska Baur; Lea Hentrich; Birgit Gerisch; Mina Zamani; Cesar Alves; Ata Siddiqui; Haidar S Dafsari; Mehri Salari; Anthony E. Lang; Michael Harris; Alice Abdelaleem; Saeid Sadeghian; Reza Azizimalamiri; Hamid Galehdari; Gholamreza Shariati; Alireza Sedaghat; Jawaher Zeighami; Daniel Calame; Dana Marafi; Ruizhi Duan; Adrian Boehnke; Gary D. Clark; Jill A. Rosenfeld; Carrie A. Mohila; Dora Steel; Saurabh Chopra; Suvasini Sharma; Nicolai Kohlschmidt; Steffi Patzer; Afshin Saffari; Darius Ebrahimi‐Fakhari; Büşra Eser Çavdartepe; Irene J Chang; Erika Beckman; Renate Peters; Andrew Paul Fennell; Bernice Lo; Luisa Averdunk; Felix Distelmaier; Martina Baethmann; Frances Elmslie; Kairit Joost; Sheela Nampoothiri; Dhanya Yesodharan; Hanna Mandel; Amy Kimball; Antonie D. Kline; Cyril Mignot; Boris Keren; Vincent Laugel; Katrin Õunap; Kalpana Devadathan; Frederique M.C. van Berkestijn; Arpana Silwal; Saskia Koene; Sumit Verma; Mohammed Yousuf Karim; Chahynez Boubidi; Majid Aziz; Gehad ElGhazali; Lauren Mattas; Mohammad Miryounesi; Farzad Hashemi‐Gorji; Shahryar Alavi; Nayereh Nouri; Mehrdad Noruzinia; Saeideh Kavousi; Arveen Kamath; Sandeep Jayawant; Russell Saneto; Nourelhoda A. Haridy; Pinar Ozkan Kart; Ali Cansu; Madeleine Joubert; Claire Beneteau; Kyra E. Stuurman; Martina Wilke; Tahsin Stefan Barakat; Homa Tajsharghi; Annarita Scardamaglia; Sadeq Vallian; Semra Hız; Ali Shoeibi; Reza Boostani; Narges Hashemi; Meisam Babaei; Norah Saleh Alsaleh; Julie Porter; Tania Attié‐Bitach; Pauline Marzin; Dorota Wicher; Jessica I. Gold; Elisabeth Schuler; Amna Kashgari; Rakan F. Alanazi; Wafaa Eyaid; Marc Engelen; Mirjam Langeveld; Burkhard Stüve; Yun Li; Gökhan Yigit; Bernd Wollnik; Mariana H.G Monje; Dimitri Krainc; Niccolò E. Mencacci; Somayeh Bakhtiari; Michael Kruer; Emanuela Argilli; Elliott Sherr; Yalda Jamshidi; Ehsan Ghayoor Karimiani; Yiu Wing Sunny Cheung; Ivan Karin; Giovanni Zifarelli; Peter Bauer; Wendy K Chung; James R. Lupski; Manju A. Kurian; Jörg Dötsch; Jürgen‐Christoph von Kleist‐Retzow; Thomas Klopstock; Matias Wagner; Calvin Yip; Andreas Roos; Rita Carsetti; Carlo Dionisi‐Vici; Mathias Gautel; Michael R Duchen; Adam Antebi; Henry Houlden; Manolis Fanto; Heinz Jungbluth
Dafsari, H S, Deneubourg, C, Singh, K, Maroofian, R, Suprenant, Z, Kho, A L, Ingham, N J, Steel, K P, Sheshadri, P, Baur, F, Hentrich, L, Gerisch, B, Zamani, M, Alves, C, Siddiqui, A, Dafsari, H S, Salari, M, Lang, A E, Harris, M, Abdelaleem, A, Sadeghian, S, Azizimalamiri, R, Galehdari, H, Shariati, G, Sedaghat, A, Zeighami, J, Calame, D , Marafi, D , Duan, R, Boehnke, A, Clark, G D , Rosenfeld, J A, Mohila, C A, Steel, D , Chopra, S, Sharma, S, Kohlschmidt, N, Patzer, S, Saffari, A, Ebrahimi-Fakhari, D , Çavdartepe, B E, Chang, I J, Beckman, E, Peters, R, Fennell, A P, Lo, B, Averdunk, L, Distelmaier, F, Baethmann, M, Elmslie, F, Joost, K, Nampoothiri, S, Yesodharan, D , Mandel, H, Kimball, A, Kline , A D , Mignot, C, Keren, B, Laugel, V, Õunap, K, Devadathan, K, van Berkestijn, F M C, Silwal, A, Koene, S, Verma, S, Karim, M Y, Boubidi, C, Aziz, M, ElGhazali, G, Mattas, L, Miryounesi, M, Hashemi-Gorji, F, Alavi, S, Nouri, N, Noruzinia, M, Kavousi, S, Kamath, A, Jayawant, S, Saneto, R, Haridy, N A, Kart, P O, Cansu, A, Joubert, M, Beneteau, C, Stuurman, K E, Wilke, M, Barakat, T S, Tajsharghi, H, Scardamaglia, A, Vallian, S, Hız, S, Shoeibi, A, Boostani, R, Hashemi, N, Babaei, M, Alsaleh, N S, Porter, J, Attié-Bitach, T, Marzin, P, Wicher, D , Gold, J I, Schuler, E, Kashgari, A, Alanazi, R F, Eyaid, W, Engelen, M, Langeveld, M, Stüve, B, Li, Y, Yigit, G, Wollnik, B, Monje, M H G, Krainc, D , Mencacci, N E, Bakhtiari, S, Kruer, M, Argilli, E, Sherr, E, Jamshidi, Y, Karimiani, E G, Cheung, Y W S, Karin, I, Zifarelli, G, Bauer, P, Chung, W K, Lupski, J R, Kurian, M A, Dötsch, J, von Kleist-Retzow, J-C, Klopstock, T, Wagner, M, Yip, C, Roos, A, Carsetti, R, Dionisi-Vici, C, Gautel, M, Duchen, M R, Antebi, A, Houlden, H, Fanto, M & Jungbluth, H 2025, 'Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism', Annals of Neurology, vol. 98, no. 5, pp. 932-950. https://doi.org/10.1002/ana.78013
Academic Journal
Choufani, Sanaa ; McNiven, Vanda ; Cytrynbaum, Cheryl ; Jangjoo, Maryam ; Adam, Margaret P. ; Bjornsson, Hans T. ; Harris, Jacqueline ; Dyment, David A. ; Graham, Gail E. ; Nezarati, Marjan M. ; Aul, Ritu B. ; Castiglioni, Claudia ; Breckpot, Jeroen ; Devriendt, Koen ; Stewart, Helen ; Banos-Pinero, Benito ; Mehta, Sarju ; Sandford, Richard ; Dunn, Carolyn ; Mathevet, Remi ; van Maldergem, Lionel ; Piard, Juliette ; Brischoux-Boucher, Elise ; Vitobello, Antonio ; Faivre, Laurence ; Bournez, Marie ; Tran-Mau, Frederic ; Maystadt, Isabelle ; Fernández-Jaén, Alberto ; Alvarez, Sara ; García-Prieto, Irene Díez ; Alkuraya, Fowzan S. ; Alsaif, Hessa S. ; Rahbeeni, Zuhair ; El-Akouri, Karen ; Al-Mureikhi, Mariam ; Spillmann, Rebecca C. ; Shashi, Vandana ; Sanchez-Lara, Pedro A. ; Graham, John M., Jr. ; Roberts, Amy ; Chorin, Odelia ; Evrony, Gilad D. ; Kraatari-Tiri, Minna ; Dudding-Byth, Tracy ; Richardson, Anamaria ; Hunt, David ; Hamilton, Laura ; Dyack, Sarah ; Mendelsohn, Bryce A. ; Rodríguez, Nicolás ; Sánchez-Martínez, Rosario ; Tenorio-Castaño, Jair ; Nevado, Julián ; Lapunzina, Pablo ; Tirado, Pilar ; Carminho Amaro Rodrigues, Maria-Teresa ; Quteineh, Lina ; Innes, A. Micheil ; Kline, Antonie D. ; Au, P.Y. Billie ; Weksberg, Rosanna
In The American Journal of Human Genetics 6 October 2022 109(10):1867-1884
Academic Journal
Margaret Olaya; Carole Samango-Sprouse; Debra Counts; Antonie D. Kline; Francie Mitchell; Elizabeth Buscema; Elizabeth Tipton; Teresa Sadeghin; Andrea L. Gropman
Frontiers in Endocrinology, Vol 16 (2025)
Academic Journal
Orphanet Journal of Rare Diseases. 19(1)
Academic Journal
Shafiq, Tooba ; Feng, Joanna L. ; Phillips, Lindsay ; Murias, Kara ; Ferguson, Marcia ; Baranano, Kristin ; Acchione, Alaina ; Kipkemoi, Patricia ; Kipkoech, Collins ; Chepkemoi, Eunice ; Abubakar, Amina ; Newton, Charles ; van der Merwe, Celia ; O’Heir, Emily ; Galvin, Alice ; Garcia, Aixa Gonzalez ; D’Souza, Alisha ; Stefanich, Jennifer ; Shillington, Amelle ; Tuttle, Annabelle ; Torti, Erin ; Zhu, Elen ; Morsink, Margaretha AJ ; Lebayle, Ekaterina ; Corneo, Barbara ; Ricupero, Christopher L. ; Au, Ping Yee Billie ; Kline, Antonie D. ; Balasubramanian, Meena ; Bain, Jennifer ; Gillentine, Madelyn A.
In Rare 2024 2
Academic Journal
Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernandez-Jaen, Alberto; Alvarez, Sara; Garcia-Prieto, Irene Diez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham Jr, John M.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodriguez, Nicolas; Sanchez-Martinez, Rosario; Tenorio-Castano, Jair; Nevado, Julian; Lapunzina, Pablo; Tirado, Pilar; Rodrigues, Maria-Teresa Carminho Amaro; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P. Y. Billie; Weksberg, Rosanna
Academic Journal
Au, P. Y. Billie; Goedhart, Caitlin; Ferguson, Marcia; Breckpot, Jeroen; Devriendt, Koenraad; Wierenga, Klaas; Fanning, Elizabeth; Grange, Dorothy K.; Graham, Gail E.; Galarreta, Carolina; Jones, Marilyn C.; Kini, Usha; Stewart, Helen; Parboosingh, Jillian S.; Kline, Antonie D.; Innes, A. Micheil; Care for Rare Canada Consortium
European Journal of Human Genetics. 26(9):1272-1281
Academic Journal
Academic Journal
Srivastava, Siddharth; Clark, Bennett; Landy-Schmitt, Colleen; Offermann, Elizabeth A.; Kline, Antonie D.; Wilkinson, Samuel T.; Grados, Marco A.
Academic Journal
Louise Jane Tofts; Jane Simmonds; Sarah B. Schwartz; Roberto M. Richheimer; Constance O’Connor; Ellen Elias; Raoul Engelbert; Katie Cleary; Brad T. Tinkle; Antonie D. Kline; Alan J. Hakim; Marion A. J. van Rossum; Verity Pacey
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Academic Journal
Connaughton, Dervla M. ; Dai, Rufeng ; Owen, Danielle J. ; Marquez, Jonathan ; Mann, Nina ; Graham-Paquin, Adda L. ; Nakayama, Makiko ; Coyaud, Etienne ; Laurent, Estelle M.N. ; St-Germain, Jonathan R. ; Blok, Lot Snijders ; Vino, Arianna ; Klämbt, Verena ; Deutsch, Konstantin ; Wu, Chen-Han Wilfred ; Kolvenbach, Caroline M. ; Kause, Franziska ; Ottlewski, Isabel ; Schneider, Ronen ; Kitzler, Thomas M. ; Majmundar, Amar J. ; Buerger, Florian ; Onuchic-Whitford, Ana C. ; Youying, Mao ; Kolb, Amy ; Salmanullah, Daanya ; Chen, Evan ; van der Ven, Amelie T. ; Rao, Jia ; Ityel, Hadas ; Seltzsam, Steve ; Rieke, Johanna M. ; Chen, Jing ; Vivante, Asaf ; Hwang, Daw-Yang ; Kohl, Stefan ; Dworschak, Gabriel C. ; Hermle, Tobias ; Alders, Mariëlle ; Bartolomaeus, Tobias ; Bauer, Stuart B. ; Baum, Michelle A. ; Brilstra, Eva H. ; Challman, Thomas D. ; Zyskind, Jacob ; Costin, Carrie E. ; Dipple, Katrina M. ; Duijkers, Floor A. ; Ferguson, Marcia ; Fitzpatrick, David R. ; Fick, Roger ; Glass, Ian A. ; Hulick, Peter J. ; Kline, Antonie D. ; Krey, Ilona ; Kumar, Selvin ; Lu, Weining ; Marco, Elysa J. ; Wentzensen, Ingrid M. ; Mefford, Heather C. ; Platzer, Konrad ; Povolotskaya, Inna S. ; Savatt, Juliann M. ; Shcherbakova, Natalia V. ; Senguttuvan, Prabha ; Squire, Audrey E. ; Stein, Deborah R. ; Thiffault, Isabelle ; Voinova, Victoria Y. ; Somers, Michael J.G. ; Ferguson, Michael A. ; Traum, Avram Z. ; Daouk, Ghaleb H. ; Daga, Ankana ; Rodig, Nancy M. ; Terhal, Paulien A. ; van Binsbergen, Ellen ; Eid, Loai A. ; Tasic, Velibor ; Rasouly, Hila Milo ; Lim, Tze Y. ; Ahram, Dina F. ; Gharavi, Ali G. ; Reutter, Heiko M. ; Rehm, Heidi L. ; MacArthur, Daniel G. ; Lek, Monkol ; Laricchia, Kristen M. ; Lifton, Richard P. ; Xu, Hong ; Mane, Shrikant M. ; Sanna-Cherchi, Simone ; Sharrocks, Andrew D. ; Raught, Brian ; Fisher, Simon E. ; Bouchard, Maxime ; Khokha, Mustafa K. ; Shril, Shirlee ; Hildebrandt, Friedhelm
In The American Journal of Human Genetics 1 October 2020 107(4):727-742
Academic Journal
Zhou, Yiyun; Shoala, Tarek Saad; Kline, Antonie D.; Francomano, Clair A.; Collins, Mary Louise Z.; Ferguson, Marcia; Billiet, Jennifer; Sunness, Janet S.; Bianchi, Michelle; Payne, Sharon; Guan, Bin; Yousaf, Sairah; Levin, Alex V.
Academic Journal
Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome
Academic Journal
Wang, You; Clemens, Julia L.; Muriello, Michael; Mu, Weiyi; Smith, Christy H.; Tran, Phuong T.; Rowe, Peter C.; Francomano, Clair; Kline, Antonie D.; Bodurtha, Joann
Academic Journal
Janek, Kevin C. ; Smith, David F. ; Kline, Antonie D. ; Benke, James R. ; Chen, Mei-Ling ; Kimball, Amy ; Ishman, Stacey L.
In International Journal of Pediatric Otorhinolaryngology August 2016 87:203-207
Academic Journal
Zhou, Yiyun; Kline, Antonie D.; Collins, Mary L.; Ferguson, Marcia; Billiet, Jennifer; Levin, Alex V.
Journal of AAPOS. 26(4):e62-e62
Academic Journal
Kaur, Maninder; Blair, Justin; Devkota, Batsal; Fortunato, Sierra; Clark, Dinah; Lawrence, Audrey; Kim, Jiwoo; Do, Wonwook; Semeo, Benjamin; Katz, Olivia; Mehta, Devanshi; Yamamoto, Nobuko; Schindler, Emma; Al Rawi, Zayd; Wallace, Nina; Wilde, Jonathan J.; McCallum, Jennifer; Liu, Jinglan; Xu, Dongbin; Jackson, Marie; Rentas, Stefan; Tayoun, Ahmad Abou; Zhe, Zhang; Abdul-Rahman, Omar; Allen, Bill; Angula, Moris A.; Anyane-Yeboa, Kwame; Argente, Jesus; Arn, Pamela H.; Armstrong, Linlea; Basel-Salmon, Lina; Baynam, Gareth; Bird, Lynne M.; Bruegger, Daniel; Ch'ng, Gaik-Siew; Chitayat, David; Clark, Robin; Cox, Gerald F.; Dave, Usha; DeBaere, Elfrede; Field, Michael; Graham Jr, John M.; Gripp, Karen W.; Greenstein, Robert; Gupta, Neerja; Heidenreich, Randy; Hoffman, Jodi; Hopkin, Robert J.; Jones, Kenneth L.; Jones, Marilyn C.; Kariminejad, Ariana; Kogan, Jillene; Lace, Baiba; Leroy, Julian; Lynch, Sally Ann; McDonald, Marie; Meagher, Kirsten; Mendelsohn, Nancy; Micule, Ieva; Moeschler, John; Nampoothiri, Sheela; Ohashi, Kaoru; Powell, Cynthia M.; Ramanathan, Subhadra; Raskin, Salmo; Roeder, Elizabeth; Rio, Marlene; Rope, Alan F.; Sangha, Karan; Scheuerle, Angela E.; Schneider, Adele; Shalev, Stavit; Siu, Victoria; Smith, Rosemarie; Stevens, Cathy; Tkemaladze, Tinatin; Toimie, John; Toriello, Helga; Turner, Anne; Wheeler, Patricia G.; White, Susan M.; Young, Terri; Loomes, Kathleen M.; Pipan, Mary; Harrington, Ann Tokay; Zackai, Elaine; Rajagopalan, Ramakrishnan; Conlin, Laura; Deardorff, Matthew A.; McEldrew, Deborah; Pie, Juan; Ramos, Feliciano; Musio, Antonio; Kline, Antonie D.; Izumi, Kosuke; Raible, Sarah E.; Krantz, Ian D.
Academic Journal
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100613- (2020)
Academic Journal
Kline Antonie D; Krantz Ian D; Deardorff Matthew A; Shirahige Katsuhiko; Dorsett Dale; Gerton Jennifer L; Wu Meng; Mehta Devanshi; Mills Jason A; Carrico Cheri S; Noon Sarah; Herrera Pamela S; Horsfield Julia A; Bettale Chiara; Morgan Jeremy; Huisman Sylvia A; Moss Jo; McCleery Joseph; Grados Marco; Hansen Blake D; Srivastava Siddharth; TaylorSnell Emily; Kerr Lynne M; Katz Olivia; Calof Anne L; Musio Antonio; Egense Alena; Haaland Richard E
American Journal of Medical Genetics Part A, vol 173, iss 5
Academic Journal
Kline, Antonie D.; Moss, Joanna F.; Selicorni, Angelo; Bisgaard, Anne-Marie; Deardorff, Matthew A.; Gillett, Peter M.; Ishman, Stacey L.; Kerr, Lynne M.; Levin, Alex V.; Mulder, Paul A.; Ramos, Feliciano J.; Wierzba, Jolanta; Ajmone, Paola Francesca; Axtell, David; Blagowidow, Natalie; Cereda, Anna; Costantino, Antonella; Cormier-Daire, Valerie; FitzPatrick, David; Grados, Marco; Groves, Laura; Guthrie, Whitney; Huisman, Sylvia; Kaiser, Frank J.; Koekkoek, Gerritjan; Levis, Mary; Mariani, Milena; McCleery, Joseph P.; Menke, Leonie A.; Metrena, Amy; O’Connor, Julia; Oliver, Chris; Pie, Juan; Piening, Sigrid; Potter, Carol J.; Quaglio, Ana L.; Redeker, Egbert; Richman, David; Rigamonti, Claudia; Shi, Angell; Tümer, Zeynep; Van Balkom, Ingrid D. C.; Hennekam, Raoul C.
Nature Reviews Genetics. 19(10):649-666
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[검색어] Kline, Antonie D.
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