학술논문
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'학술논문'
에서 검색결과 121건 | 목록
1~20
Academic Journal
Youlten, Scott E. ; Miao, Liyun ; Hoppe, Caroline ; Boswell, Curtis W. ; Musaev, Damir ; Abdelmessih, Mario ; Olowookere, Damilola ; Weiss, Linnea A. ; Krishnaswamy, Smita ; Giraldez, Antonio J. ; Tornini, Valerie A.
In Cell Reports 25 November 2025 44(11)
Academic Journal
Makarova, Liudmila A.; Musaev, Michail T.; Kalandiia, Margarita R.; Kostrov, Sergey A.; Kramarenko, Elena Yu.; Salnikov, Vitalii D.; Gavrilov, Damir E.; Omelyanchik, Aleksander S.; Rodionova, Valeria V.; Perov, Nikolai S.
Polymers. May, 2025, Vol. 17 Issue 9
Academic Journal
Musaev, Damir ; Abdelmessih, Mario ; Vejnar, Charles E. ; Yartseva, Valeria ; Weiss, Linnea A. ; Strayer, Ethan C. ; Takacs, Carter M. ; Giraldez, Antonio J.
In Cell Reports 23 April 2024 43(4)
Academic Journal
Michael E. Coulter; Damir Musaev; Ellen M. DeGennaro; Xiaochang Zhang; Katrin Henke; Kiely N. James; Richard S. Smith; R. Sean Hill; Jennifer N. Partlow; null Muna Al-Saffar; A. Stacy Kamumbu; Nicole Hatem; A. James Barkovich; Jacqueline Aziza; Nicolas Chassaing; Maha S. Zaki; Tipu Sultan; Lydie Burglen; Anna Rajab; Lihadh Al-Gazali; Ganeshwaran H. Mochida; Matthew P. Harris; Joseph G. Gleeson; Christopher A. Walsh
Genet Med
Genetics in Medicine, vol 22, iss 6
Genetics in Medicine, vol 22, iss 6
Academic Journal
Monica Zilmer; Andrew C Edmondson; Sumeet A Khetarpal; Viola Alesi; Maha S Zaki; Kevin Rostasy; Camilla G Madsen; Francesca R Lepri; Lorenzo Sinibaldi; Raffaella Cusmai; Antonio Novelli; Mahmoud Y Issa; Christina D Fenger; Rami Abou Jamra; Heiko Reutter; Silvana Briuglia; Emanuele Agolini; Lars Hansen; Ulla E Petäjä-Repo; John Hintze; Kimiyo M Raymond; Kristen Liedtke; Valentina Stanley; Damir Musaev; Joseph G Gleeson; Cecilia Vitali; W Timothy O’Brien; Elena Gardella; Guido Rubboli; Daniel J Rader; Katrine T Schjoldager; Rikke S Møller
Zilmer, M, Edmondson, A C, Khetarpal, S A, Alesi, V, Zaki, M S, Rostasy, K, Madsen, C G, Lepri, F R, Sinibaldi, L, Cusmai, R, Novelli, A, Issa, M Y, Fenger, C D, Jamra, R A, Reutter, H, Briuglia, S, Agolini, E, Hansen, L, Petäjä-Repo, U E, Hintze, J, Raymond, K M, Liedtke, K, Stanley, V, Musaev , D, Gleeson, J G, Vitali, C, O’Brien, W T, Gardella, E, Rubboli, G, Rader, D J, Schjoldager, K T & Møller, R S 2020, ' Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function ', Brain, vol. 143, no. 4, pp. 1114-1126 . https://doi.org/10.1093/brain/awaa063
Academic Journal
Nguyen, Thi Tuyet Mai ; Murakami, Yoshiko ; Mobilio, Sabrina ; Niceta, Marcello ; Zampino, Giuseppe ; Philippe, Christophe ; Moutton, Sébastien ; Zaki, Maha S. ; James, Kiely N. ; Musaev, Damir ; Mu, Weiyi ; Baranano, Kristin ; Nance, Jessica R. ; Rosenfeld, Jill A. ; Braverman, Nancy ; Ciolfi, Andrea ; Millan, Francisca ; Person, Richard E. ; Bruel, Ange-Line ; Thauvin-Robinet, Christel ; Ververi, Athina ; DeVile, Catherine ; Male, Alison ; Efthymiou, Stephanie ; Maroofian, Reza ; Houlden, Henry ; Maqbool, Shazia ; Rahman, Fatima ; Baratang, Nissan V. ; Rousseau, Justine ; St-Denis, Anik ; Elrick, Matthew J. ; Anselm, Irina ; Rodan, Lance H. ; Tartaglia, Marco ; Gleeson, Joseph ; Kinoshita, Taroh ; Campeau, Philippe M.
In The American Journal of Human Genetics 2 April 2020 106(4):484-495
Academic Journal
Martin W. Breuss; Danny Antaki; Renee D. George; Morgan Kleiber; Kiely N. James; Laurel L. Ball; Oanh Hong; Ileena Mitra; Xiaoxu Yang; Sara A. Wirth; Jing Gu; Camila A. B. Garcia; Madhusudan Gujral; William M. Brandler; Damir Musaev; An Nguyen; Jennifer McEvoy-Venneri; Renatta Knox; Evan Sticca; Martha Cristina Cancino Botello; Javiera Uribe Fenner; Maria Cárcel Pérez; Maria Arranz; Andrea B. Moffitt; Zihua Wang; Amaia Hervás; Orrin Devinsky; Melissa Gymrek; Jonathan Sebat; Joseph G. Gleeson
Nat Med
Nature Medicine, vol 26, iss 1
Nature Medicine, vol 26, iss 1
Academic Journal
Charles E. Vejnar; Mario Abdel Messih; Carter M. Takacs; Valeria Yartseva; Panos Oikonomou; Romain Christiano; Marlon Stoeckius; Stephanie Lau; Miler T. Lee; Jean-Denis Beaudoin; Damir Musaev; Hiba Darwich-Codore; Tobias C. Walther; Saeed Tavazoie; Daniel Cifuentes; Antonio J. Giraldez
Genome Res
Academic Journal
Ekin Ucuncu; Karthyayani Rajamani; Miranda S. C. Wilson; Daniel Medina-Cano; Nami Altin; Pierre David; Giulia Barcia; Nathalie Lefort; Céline Banal; Marie-Thérèse Vasilache-Dangles; Gaële Pitelet; Elsa Lorino; Nathalie Rabasse; Eric Bieth; Maha S. Zaki; Meral Topcu; Fatma Mujgan Sonmez; Damir Musaev; Valentina Stanley; Christine Bole-Feysot; Patrick Nitschké; Arnold Munnich; Nadia Bahi-Buisson; Catherine Fossoud; Fabienne Giuliano; Laurence Colleaux; Lydie Burglen; Joseph G. Gleeson; Nathalie Boddaert; Adolfo Saiardi; Vincent Cantagrel
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Academic Journal
Magini, Pamela ; Smits, Daphne J. ; Vandervore, Laura ; Schot, Rachel ; Columbaro, Marta ; Kasteleijn, Esmee ; van der Ent, Mees ; Palombo, Flavia ; Lequin, Maarten H. ; Dremmen, Marjolein ; de Wit, Marie Claire Y. ; Severino, Mariasavina ; Divizia, Maria Teresa ; Striano, Pasquale ; Ordonez-Herrera, Natalia ; Alhashem, Amal ; Al Fares, Ahmed ; Al Ghamdi, Malak ; Rolfs, Arndt ; Bauer, Peter ; Demmers, Jeroen ; Verheijen, Frans W. ; Wilke, Martina ; van Slegtenhorst, Marjon ; van der Spek, Peter J. ; Seri, Marco ; Jansen, Anna C. ; Stottmann, Rolf W. ; Hufnagel, Robert B. ; Hopkin, Robert J. ; Aljeaid, Deema ; Wiszniewski, Wojciech ; Gawlinski, Pawel ; Laure-Kamionowska, Milena ; Alkuraya, Fowzan S. ; Akleh, Hanah ; Stanley, Valentina ; Musaev, Damir ; Gleeson, Joseph G. ; Zaki, Maha S. ; Brunetti-Pierri, Nicola ; Cappuccio, Gerarda ; Davidov, Bella ; Basel-Salmon, Lina ; Bazak, Lily ; Shahar, Noa Ruhrman ; Bertoli-Avella, Aida ; Mirzaa, Ghayda M. ; Dobyns, William B. ; Pippucci, Tommaso ; Fornerod, Maarten ; Mancini, Grazia M.S.
In The American Journal of Human Genetics 3 October 2019 105(4):689-705
Academic Journal
Chan, Shun Hang ; Tang, Yin ; Miao, Liyun ; Darwich-Codore, Hiba ; Vejnar, Charles E. ; Beaudoin, Jean-Denis ; Musaev, Damir ; Fernandez, Juan P. ; Benitez, Maria D.J. ; Bazzini, Ariel A. ; Moreno-Mateos, Miguel A. ; Giraldez, Antonio J.
In Developmental Cell 17 June 2019 49(6):867-881
Academic Journal
Ranad, Shaheen; Nan, Jiang; Fatema, Alzahrani; Nour, Ewida; Tarfa, Al-Sheddi; Eman, Alobeid; Damir, Musaev; Valentina, Stanley; Mais, Hashem; Niema, Ibrahim; Firdous, Abdulwahab; Abduljabbar, Alshenqiti; Fatma Mujgan, Sonmez; Nadia, Saqati; Hamad, Alzaidan; Mohammad M, Al-Qattan; Futwan, Al-Mohanna; Joseph G, Gleeson; Fowzan S, Alkuraya
The American Journal of Human Genetics. 104:731-737
Academic Journal
Devesh C. Pant; Imen Dorboz; Agatha Schluter; Stéphane Fourcade; Nathalie Launay; Javier Joya; Sergio Aguilera-Albesa; Maria Eugenia Yoldi; Carlos Casasnovas; Mary J. Willis; Montserrat Ruiz; Dorothée Ville; Gaetan Lesca; Karine Siquier-Pernet; Isabelle Desguerre; Huifang Yan; Jingmin Wang; Margit Burmeister; Lauren Brady; Mark Tarnopolsky; Carles Cornet; Davide Rubbini; Javier Terriente; Kiely N. James; Damir Musaev; Maha S. Zaki; Marc C. Patterson; Brendan C. Lanpher; Eric W. Klee; Filippo Pinto e Vairo; Elizabeth Wohler; Nara Lygia de M. Sobreira; Julie S. Cohen; Reza Maroofian; Hamid Galehdari; Neda Mazaheri; Gholamreza Shariati; Laurence Colleaux; Diana Rodriguez; Joseph G. Gleeson; Cristina Pujades; Ali Fatemi; Odile Boespflug-Tanguy; Aurora Pujol
Dipòsit Digital de la UB
Universidad de Barcelona
Articles publicats en revistes (Ciències Clíniques)
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Universidad de Barcelona
Articles publicats en revistes (Ciències Clíniques)
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Academic Journal
Alicia Guemez‐Gamboa; Ahmet Okay Çağlayan; Valentina Stanley; Anne Gregor; Maha S. Zaki; Sahar N. Saleem; Damir Musaev; Jennifer McEvoy‐Venneri; Denice Belandres; Naiara Akizu; Jennifer L. Silhavy; Jana Schroth; Rasim Ozgur Rosti; Brett Copeland; Steven M. Lewis; Rebecca Fang; Mahmoud Y. Issa; Huseyin Per; Hakan Gumus; Ayse Kacar Bayram; Sefer Kumandas; Gozde Tugce Akgumus; Emine Z. Erson‐Omay; Katsuhito Yasuno; Kaya Bilguvar; Gali Heimer; Nir Pillar; Noam Shomron; Daphna Weissglas‐Volkov; Yuval Porat; Yaron Einhorn; Stacey Gabriel; Bruria Ben‐Zeev; Murat Gunel; Joseph G. Gleeson
Annals of Neurology. 84:638-647
Academic Journal
Valyavin, Gennady; Beskin, Grigory; Valeev, Azamat; Galazutdinov, Gazinur; Fabrika, Sergei; Romanyuk, Iosif; Aitov, Vitaly; Yakovlev, Oleg; Ivanova, Anastasia; Baluev, Roman; Vlasyuk, Valery; Han, Inwoo; Karpov, Sergei; Sasyuk, Vyacheslav; Perkov, Alexei; Bondar, Sergei; Musaev, Faig; Emelianov, Eduard; Fatkhullin, Timur; Drabek, Sergei; Shergin, Vladimir; Lee, Byeong-Cheol; Mitiani, Guram; Burlakova, Tatiana; Yushkin, Maksim; Sendzikas, Eugene; Gadelshin, Damir; Chmyreva, Lisa; Beskakotov, Anatoly; Dyachenko, Vladimir; Rastegaev, Denis; Mitrofanova, Arina; Yakunin, Ilia; Antonyuk, Kirill; Plokhotnichenko, Vladimir; Gutaev, Alexei; Lyapsina, Nadezhda; Chernenkov, Vladimir; Biryukov, Anton; Ivanov, Evgenij; Katkova, Elena; Belinski, Alexander; Sokov, Eugene; Tavrov, Alexander; Korablev, Oleg; Park, Myeong-Gu; Stolyarov, Vladislav; Bychkov, Victor; Gorda, Stanislav; Popov, A. A.; Sobolev, A. M.
Photonics. December, 2022, Vol. 9 Issue 12
Academic Journal
De Mori, Roberta ; Romani, Marta ; D’Arrigo, Stefano ; Zaki, Maha S. ; Lorefice, Elisa ; Tardivo, Silvia ; Biagini, Tommaso ; Stanley, Valentina ; Musaev, Damir ; Fluss, Joel ; Micalizzi, Alessia ; Nuovo, Sara ; Illi, Barbara ; Chiapparini, Luisa ; Di Marcotullio, Lucia ; Issa, Mahmoud Y. ; Anello, Danila ; Casella, Antonella ; Ginevrino, Monia ; Leggins, Autumn Sa’na ; Roosing, Susanne ; Alfonsi, Romina ; Rosati, Jessica ; Schot, Rachel ; Mancini, Grazia Maria Simonetta ; Bertini, Enrico ; Dobyns, William B. ; Mazza, Tommaso ; Gleeson, Joseph G. ; Valente, Enza Maria
In The American Journal of Human Genetics 5 October 2017 101(4):552-563
Academic Journal
Jennifer Friedman; Desiree E. Smith; Mahmoud Y. Issa; Valentina Stanley; Rengang Wang; Marisa I. Mendes; Meredith S. Wright; Kristen Wigby; Amber Hildreth; John R. Crawford; Alanna E. Koehler; Shimul Chowdhury; Shareef Nahas; Liting Zhai; Zhiwen Xu; Wing-Sze Lo; Kiely N. James; Damir Musaev; Andrea Accogli; Kether Guerrero; Luan T. Tran; Tarek E. I. Omar; Tawfeg Ben-Omran; David Dimmock; Stephen F. Kingsmore; Gajja S. Salomons; Maha S. Zaki; Geneviève Bernard; Joseph G. Gleeson
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Academic Journal
Periklis Makrythanasis; Reza Maroofian; Asbjørg Stray-Pedersen; Damir Musaev; Maha S. Zaki; Iman G. Mahmoud; Laila Selim; Amera Elbadawy; Shalini N. Jhangiani; Zeynep H. Coban Akdemir; Tomasz Gambin; Hanne S. Sorte; Arvid Heiberg; Jennifer McEvoy-Venneri; Kiely N. James; Valentina Stanley; Denice Belandres; Michel Guipponi; Federico A. Santoni; Najmeh Ahangari; Fatemeh Tara; Mohammad Doosti; Justyna Iwaszkiewicz; Vincent Zoete; Paul Hoff Backe; Hanan Hamamy; Joseph G. Gleeson; James R. Lupski; Ehsan Ghayoor Karimiani; Stylianos E. Antonarakis
Eur J Hum Genet
European journal of human genetics, vol. 26, no. 3, pp. 330-339
European journal of human genetics, vol. 26, no. 3, pp. 330-339
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[검색어] Damir Musaev
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