학술논문
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'학술논문'
에서 검색결과 102건 | 목록
1~20
Academic Journal
Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Hannah, Michael G.; Bugiardini, Enrico; Bertini, Enrico; Kriouile, Yamna; El-Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Karashova, Blagovesta M.; Goraya, Jatinder S.; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Lanari, Marcello; Savasta, Salvatore; Macaya, Alfons; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Papanicolaou, Eleni Z.; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat N.; Atawneh, Osama; Lim, Shen-Yang; Zuccotti, Gian V.; Marseglia, Gian L.; Esposito, Susanna; Shaikh, Farooq; Cogo, Paola; Corsello, Giovanni; Mangano, Salvatore; Nardello, Rosaria; Mangano, Donato; Scardamaglia, Annarita; Koutsis, George; Scuderi, Carmela; Ferrara, Pietro; Morello, Giovanna; Zollo, Massimo; Berni-Canani, Roberto; Terracciano, Luigi M.; Sisto, Antonio; Di Fabio, Sandra; Strano, Federica; Scorrano, Giovanna; Di Bella, Saverio; Di Francesco, Ludovica; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Fiorillo, Chiara; Iacomino, Michele; Gaudio, Eugenio; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Iughetti, Lorenzo; Di Rosa, Gabriella; Maghnie, Mohamad; Pettoello-Mantovani, Massimo; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Bottone, Gabriella; Farello, Giovanni; Delvecchio, Maurizio; Di-Donato, Giulio; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Miraglia-Del-Giudice, Michele; Maccarone, Rita; Triki, Chahnez C.; Kara, Majdi; Karimiani, Ehsan G.; Salih, Ahmed M.; Ramenghi, Luca A.; Seri, Marco; Di-Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elisa, Maurizio; Cherubini, Enrico; Operto, Francesca F.; Valenzise, Mariella; Cattaneo, Antonino; Zazzeroni, Francesca; Alesse, Edoardo; Matricardi, Sara; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Rahman, Fatima; Ahmed, Muhammad M.; Parisi, Pasquale; Spalice, Alberto; De Filippo, Maria; Licari, Amelia; Trebbi, Edoardo; Romano, Ferdinando; Heimer, Gali; Al-Khawaja, Issam; Al-Mutairi, Fuad; Alkuraya, Fowzan S.; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Jepson, James E. C.; Houlden, Henry
Am J Hum Genet
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
Academic Journal
Steyaert, Wouter; Sagath, Lydia; Demidov, German; Yépez, Vicente A.; Esteve-Codina, Anna; Gagneur, Julien; Ellwanger, Kornelia; Derks, Ronny; Weiss, Marjan; den Ouden, Amber; van den Heuvel, Simone; Swinkels, Hilde; Zomer, Nick; Steehouwer, Marloes; O'Gorman, Luke; Astuti, Galuh; Neveling, Kornelia; Schüle, Rebecca; Xu, Jishu; Synofzik, Matthis; Beijer, Danique; Hengel, Holger; Schöls, Ludger; Claeys, Kristl G.; Baets, Jonathan; Van de Vondel, Liedewei; Ferlini, Alessandra; Selvatici, Rita; Morsy, Heba; Saeed Abd Elmaksoud, Marwa; Straub, Volker; Müller, Juliane; Pini, Veronica; Perry, Luke; Sarkozy, Anna; Zaharieva, Irina; Muntoni, Francesco; Bugiardini, Enrico; Polavarapu, Kiran; Horvath, Rita; Reid, Evan; Lochmüller, Hanns; Spinazzi, Marco; Savarese, Marco; Solve-RD DITF-ITHACA, Solve-RD DITF-Euro-NMD, Solve-RD DITF-RND, Solve-RD DITF-EpiCARE; Matalonga, Leslie; Laurie, Steven; Brunner, Han G.; Graessner, Holm; Beltran, Sergi; Ossowski, Stephan; Vissers, Lisenka E.LM.; Gilissen, Christian; Hoischen, Alexander; Solve-RD consortium
Genome Res
Genome research 35(4), 755-768 (2025). doi:10.1101/gr.279414.124
Genome Research, 35, 4, pp. 755-768
Genome research
Genome research 35(4), 755-768 (2025). doi:10.1101/gr.279414.124
Genome Research, 35, 4, pp. 755-768
Genome research
Academic Journal
Holling, Tess; Abdelrazek, Ibrahim M.; Elhady, Ghada M.; Abd Elmaksoud, Marwa; Ryu, Seung Woo; Abdalla, Ebtesam; Kutsche, Kerstin
Journal of Human Genetics. 69(12):623-628
Academic Journal
Gosling, Corentin; Caparos, Serge; Pinabiaux, Charlotte; Schwarzer, Guido; Rücker, Gerta; Agha, Sharifah; Alrouh, Hekmat; Ambler, Antony; Anderson, Peter; Andiarena, Ainara; Arnold, L Eugene; Arseneault, Louise; Asherson, Philip; Babinski, Leslie; Barbati, Vittoria; Barkley, Russel; Barros, Aluisio; Barros, Fernando; Bates, John; Bell, Laura; Berenguer, Carmen; van Bergen, Elsje; Biederman, Joseph; Birmaher, Boris; Bøe, Tormod; Boomsma, Dorret; Brandt, Valerie; Bressan, Rodrigo; Brocki, Karin; Broughton, Thomas; Bufferd, Sara; Bussing, Regina; Cao, Meng; Cartigny, Ariane; Casas, Ana Miranda; Caspi, Avshalom; Castellanos, F Xavier; Caye, Arthur; Cederkvist, Luise; Collishaw, Stephan; Copeland, William; Cote, Sylvana; Coventry, William; Debes, Nanette M.M. Mol; Denyer, Hayley; Dodge, Kenneth; Dogru, Hicran; Efron, Daryl; Eller, Jami; Abd Elmaksoud, Marwa; Ercan, Eyup Sabri; Faraone, Stephen; Fenesy, Michelle; Fernández, Mariana; Fernández-Somoano, Ana; Findling, Robert; Fombonne, Eric; Fossum, Ingrid; Freire, Carmen; Friedman, Naomi; Fristad, Mary; Galera, Cedric; Garcia-Argibay, Miguel; Garvan, Cynthia; González-Safont, Llúcia; Groenman, Annabeth; Guxens, Mònica; Halperin, Jeffrey; Hamadeh, Randah; Hartman, Catharina; Hill, Shirley; Hinshaw, Stephen; Hipwell, Alison; Hokkanen, Laura; Holz, Nathalie; Íñiguez, Carmen; Jahrami, Haitham; Jansen, Pauline; Jónsdóttir, Lilja; Julvez, Jordi; Kaiser, Anna; Keenan, Kate; Klein, Daniel; Klein, Rachel; Kuntsi, Jonna; Langfus, Joshua; Langley, Kate; Lansford, Jennifer; Larsen, Sally; Larsson, Henrik; Law, Evelyn; Lee, Steve; Lertxundi, Nerea; Li, Xiaobo; Li, Yueling; Lichtenstein, Paul; Liu, Jianghong; Lundervold, Astri; Lundström, Sebastian; Marks, David; Martin, Joanna; Masi, Gabriele; Matijasevich, Alicia; Melchior, Maria; Moffitt, Terrie; Monninger, Maximilian; Morrison, Claire; Mulraney, Melissa; Muratori, Pietro; Nguyen, Phuc; Nicholson, Jan; Øie, Merete Glenne; O'Neill, Sarah; O'Connor, Cliodhna; Orri, Massimiliano; Pan, Pedro; Pascoe, Leona; Pettit, Gregory; Price, Jolie; Rebagliato, Marisa; Riaño-Galán, Isolina; Rohde, Luis; Roisman, Glenn; Rosa, Maria; Rosenbaum, Jerrold; Salum, Giovanni; Sammallahti, Sara; Santos, Ina; Schiavone, Nella; Schmid, Lorrie; Sciberras, Emma; Shaw, Philip; Silk, Tim; Simpson, Jeffry; Skogli, Erik; Stepp, Stephanie; Strandberg-Larsen, Katrine; Sudre, Gustavo; Sunyer, Jordi; Tandon, Mini; Thapar, Anita; Thomson, Phoebe; Thorell, Lisa; Tinchant, Hannah; Torrent, Maties; Tovo-Rodrigues, Luciana; Tripp, Gail; Ukoumunne, Obioha; van Goozen, Stephanie Hm; Vos, Melissa; Wallez, Solène; Wang, Yufeng; Westermaier, Franz; Whalen, Diana; Yoncheva, Yuliya; Youngstrom, Eric; Sayal, Kapil; Solmi, Marco; Delorme, Richard; Cortese, Samuele
Debes, N M M M, Larsson, H & Synergy for the Influence of the Month of Birth in ADHD (SIMBA) study group 2023, ' Association between relative age at school and persistence of ADHD in prospective studies : an individual participant data meta-analysis ', The Lancet Psychiatry, vol. 10, no. 12, pp. 922-933 . https://doi.org/10.1016/S2215-0366(23)00272-9
Academic Journal
Morsy, Heba; Kim, Hyeonho; Jang, Gyubin; Zaki, Maha S.; Severino, Mariasavina; Abdelrazek, Ibrahim M.; Hussien, Haytham; Self, Eleanor; Albaradie, Raidah Saleem; Bakur, Khadijah; Firoozfar, Zahra; Efthymiou, Stephanie; Noureldeen, Mahmoud M.; Nabil, Amira; Alvi, Javeria Raza; Molavi, Fateme; Alavi, Shahryar; Alibakhshi, Reza; Topcu, Vehap; Mancilar, Hanifenur; Uctepe, Eyyup; Yesilyurt, Ahmet; Aldhalaan, Hesham; Tous, Ehab Salah Showki; Alhaddad, Bader; Elbendary, Hasnaa M.; Scardamaglia, Annarita; Murphy, David; Yepez, Vicente A.; Gagneur, Julien; Omar, Tarek I.; Abd Elmaksoud, Marwa; Vandrovocova, Jana; Abdalla, Ebtessam; Reilly, Mary M.; Sultan, Tipu; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Um, Ji Won; Houlden, Henry; Ko, Jaewon; Maroofian, Reza
Academic Journal
Abdel Baky, Ashraf, MD, PhD; Al Refaei, Ashraf, MD, PhD; El Melegy, Ebtesam, MD, PhD; Tantawi, Hayam, MD, PhD; Mansour, Lobna, MD, PhD; Mohamed, Moustafa, MD, PhD; El Rashidy, Omnia, MD, PhD; Hassanein, Sahar, MD, PhD; Omar, Tarek, MD, PhD; Elsayeh, Abdelsattar, MD, PhD; ElGazzar, Hammouda, MD, PhD; Amer, Yasser Sami, MD; Abd Elmaksoud, Marwa, MD, PhD
Pediatric Neurology. 157:14-18
Academic Journal
Emily Banks; Vincent Francis; Sheng-Jia Lin; Fares Kharfallah; Vladimir Fonov; Maxime Lévesque; Chanshuai Han; Gopinath Kulasekaran; Marius Tuznik; Armin Bayati; Reem Al-Khater; Fowzan S. Alkuraya; Loukas Argyriou; Meisam Babaei; Melanie Bahlo; Behnoosh Bakhshoodeh; Eileen Barr; Lauren Bartik; Mahmoud Bassiony; Miriam Bertrand; Dominique Braun; Rebecca Buchert; Mauro Budetta; Maxime Cadieux-Dion; Daniel G. Calame; Heidi Cope; Donna Cushing; Stephanie Efthymiou; Marwa Abd Elmaksoud; Huda G. El Said; Tawfiq Froukh; Harinder K. Gill; Joseph G. Gleeson; Laura Gogoll; Elaine S.-Y. Goh; Vykuntaraju K. Gowda; Tobias B. Haack; Mais O. Hashem; Stefan Hauser; Trevor L. Hoffman; Jacob S. Hogue; Akimoto Hosokawa; Henry Houlden; Kevin Huang; Stephanie Huynh; Ehsan G. Karimiani; Silke Kaulfuß; G. Christoph Korenke; Amy Kritzer; Hane Lee; James R. Lupski; Elysa J. Marco; Kirsty McWalter; Arakel Minassian; Berge A. Minassian; David Murphy; Juanita Neira-Fresneda; Hope Northrup; Denis M. Nyaga; Barbara Oehl-Jaschkowitz; Matthew Osmond; Richard Person; Davut Pehlivan; Cassidy Petree; Lynette G. Sadleir; Carol Saunders; Ludger Schoels; Vandana Shashi; Rebecca C. Spillmann; Varunvenkat M. Srinivasan; Paria N. Torbati; Tulay Tos; Undiagnosed Diseases Network; Maha S. Zaki; Dihong Zhou; Christiane Zweier; Jean-François Trempe; Thomas M. Durcan; Ziv Gan-Or; Massimo Avoli; Cesar Alves; Gaurav K. Varshney; Reza Maroofian; David A. Rudko; Peter S. McPherson
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Academic Journal
Pediatric Neurology. 154:58-65
Academic Journal
Asmaa K. Amin; Sara H. El‐Dessouky; Marwa Abd Elmaksoud; Amira Nabil; Mona M. Aboulghar; Sameh M. Senousy; Nagham M. Elbagoury; Asmaa F. Abdel‐Aleem; Mona L. Essawi; Heba A. El‐Awady; Engy A. Ashaat; Mahmoud Y. Issa; Khoushoua Alaadin; Lova S. Matsa; Noha M. Issa; Maha S. Zaki; Maha Mohamed Eid; Wessam E. Sharaf‐Eldin; Ebtesam Abdalla
Clinical Genetics. 108:433-449
Academic Journal
Mohammed Abdel Naby Mohammed; Mohamed Mostafa EL-Hamady; Shorouk Fathi Abd-Elmaksoud; Marwa Mohamed Mahmoud
Benha Journal of Applied Sciences. 9:121-137
Academic Journal
Heba Morsy; Hyeonho Kim; Gyubin Jang; Maha S Zaki; Eleanor Self; Ibrahim Abdelrazek; Mariasavina Severino; Raidah Saleem Albaradie; Khadijah Bakur; Stephanie Efthymiou; Haytham Hussein; Mahmoud M Noureldeen; Bader Alhaddad; Hasnaa M Elbendary; Javeria Raza Alvi; Annarita Scardamaglia; David Murphy; Vicente A Yépez; Julien Gagneur; Tarek I Omar; Marwa Abd Elmaksoud; Jana Vandrovocova; Ebtessam Abdallah; Mary M Reilly; Tipu Sultan; Fowzan S Alkuraya; Joseph G Gleeson; Ji Won Um; Henry Houlden; Jaewon Ko; Reza Maarofian
Academic Journal
Natalia Juliá-Palacios; Gerard Muñoz-Pujol; Reza Maroofian; Aida M Bertoli-Avella; Marta Gómez-Chiari; Jordi Muchart-López; Abraham J Paredes-Fuentes; Mar O’Callaghan; Irene S Machado-Casas; Ingrid Cristian; Jennifer Morrison; Angels Garcia-Cazorla; Anna Codina; Mohammad Miryounesi; Emir Zonic; Peter Bauer; Huma Cheema; Muhammad Nadeem Anjum; Nouriya Al-Sannaa; Marwa Abd Elmaksoud; Faroug Ababneh; Sahar Alijanpour; Seyed Hassan Tonekaboni; Afshin Fayazi; Maria Urbaniak; Uxía Barba; Janet Hoenicka; Francesc Palau; Henry Houlden; Juan Darío Ortigoza-Escobar; Antonia Ribes; Carlos Santos-Ocaña; Millie Tyler; Patrick Gaffney; Christopher J Carroll; Frederic Tort; Klaas J Wierenga; Bryn D Webb; Rafael Artuch; Heidy Baide-Mairena; Roser Urreizti
Brain Commun
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Academic Journal
Eden Engal; Kaisa Teele Oja; Reza Maroofian; Ophir Geminder; Thuy-Linh Le; Pauline Marzin; Anne Guimier; Evyatar Mor; Naama Zvi; Naama Elefant; Maha S. Zaki; Joseph G. Gleeson; Kai Muru; Sander Pajusalu; Monica H. Wojcik; Divya Pachat; Marwa Abd Elmaksoud; Won Chan Jeong; Hane Lee; Peter Bauer; Giovanni Zifarelli; Henry Houlden; Muhannad Daana; Orly Elpeleg; Jeanne Amiel; Stanislas Lyonnet; Christopher T. Gordon; Tamar Harel; Katrin Õunap; Maayan Salton; Hagar Mor-Shaked
The American Journal of Human Genetics. 110:2112-2119
Academic Journal
Journal of High Institute of Public Health, Vol 52, Iss 2, Pp 65-72 (2022)
Academic Journal
In Epilepsy Research May 2021 172
Academic Journal
Alexandria Journal of Pediatrics. 36:51-59
Academic Journal
Mahmoud S. Abdel-Wahed; Mohamed Mokhtar Hefny; Sherif Abd-Elmaksoud; Mohamed A. El-Liethy; Marwa A. Kamel; Amer S. El-Kalliny; Ibrahim Ahmed Hamza
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Academic Journal
Omar Abdul Hameed Abdul Moneam; Mohamed Mostafa El-Hamady; Shorouk Fathi Abd-Elmaksoud; Marwa Mohamed Mahmoud
The Egyptian Journal of Hospital Medicine. 89:5601-5613
Academic Journal
Steyaert, Wouter; Sagath, Lydia; Demidov, German; Yepez, Vicente A.; Esteve-Codina, Anna; Gagneur, Julien; Ellwanger, Kornelia; Derks, Ronny; Weiss, Marjan; den Ouden, Amber; van den Heuvel, Simone; Swinkels, Hilde; Zomer, Nick; Steehouwer, Marloes; O'Gorman, Luke; Astuti, Galuh; Neveling, Kornelia; Schuele, Rebecca; Xu, Jishu; Synofzik, Matthis; Beijer, Danique; Hengel, Holger; Schoels, Ludger; Claeys, Kristl G.; Baets, Jonathan; Van de Vondel, Liedewei; Ferlini, Alessandra; Selvatici, Rita; Morsy, Heba; Saeed Abd Elmaksoud, Marwa; Straub, Volker; Mueller, Juliane; Pini, Veronica; Perry, Luke; Sarkozy, Anna; Zaharieva, Irina; Muntoni, Francesco; Bugiardini, Enrico; Polavarapu, Kiran; Horvath, Rita; Reid, Evan; Lochmueller, Hanns; Spinazzi, Marco; Savarese, Marco; Matalonga, Leslie; Laurie, Steven; Brunner, Han G.; Graessner, Holm; Beltran, Sergi; Ossowski, Stephan; Vissers, Lisenka E. L. M.; Gilissen, Christian; Hoischen, Alexander; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCare; Solve-RD consortium
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