학술논문
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'학술논문'
에서 검색결과 133건 | 목록
1~20
Academic Journal
Pehlivan, Davut ; Sandoval, Abigail ; Maroofian, Reza ; Lecoquierre, François ; Al Shamsi, Aisha M. ; Lee, Gyu S. ; Yesilbas, Osman ; Taylor, Preston ; McDougal, Matthew B. ; Bahrambeigi, Vahid ; Aryani, Omid ; Ramirez, Juan Felipe ; Salih, Khalid Hama ; Al Alam, Chadi ; Morsy, Heba ; Hussien, Haytham ; Omar, Tarek ; Abdelrazek, Ibrahim M. ; Brehin, Anne Claire ; Marafi, Dana ; Kalayci, Tugba ; Rahma, Jubran Abu ; Talbeya, Jawabreh Kassem ; Dabbah, Husein ; Verspyck, Eric ; Moosavian, Toktam ; Fatih, Jawid M. ; Mitani, Tadahiro ; Akay, Gulsen ; Calame, Daniel G. ; Guerrot, Anne-Marie ; Chung, Wendy K. ; Houlden, Henry ; Lupski, James R. ; Shalata, Adel ; Yoon, Wan Hee
In The American Journal of Human Genetics 5 March 2026 113(3):548-561
Academic Journal
Iruzubieta, Pablo ; Alves, César Augusto Pinheiro Ferreira ; Al Shamsi, Aisha M. ; ElGhazali, Gehad ; Zaki, Maha S. ; Pinelli, Lorenzo ; Lopergolo, Diego ; Cho, Bernard P.H. ; Jolly, Amy A. ; Al Futaisi, Amna ; Al-Amrani, Fatema ; Galli, Jessica ; Fazzi, Elisa ; Vulin, Katarina ; Barajas-Olmos, Francisco ; Hengel, Holger ; Aljamal, Bayan Mohammed ; Nasr, Vahideh ; Assarzadegan, Farhad ; Ragno, Michele ; Trojano, Luigi ; Ojeda, Naomi Meave ; Çakar, Arman ; Bianchi, Silvia ; Pescini, Francesca ; Poggesi, Anna ; Al Tenalji, Amal ; Aziz, Majid ; Mohammad, Rahema ; Chedrawi, Aziza ; De Stefano, Nicola ; Zifarelli, Giovanni ; Schöls, Ludger ; Haack, Tobias B. ; Rebelo, Adriana ; Zuchner, Stephan ; Koc, Filiz ; Griffiths, Lyn R. ; Orozco, Lorena ; Helmes, Karla García ; Babaei, Meisam ; Bauer, Peter ; Chan Jeong, Won ; Karimiani, Ehsan Ghayoor ; Schmidts, Miriam ; Gleeson, Joseph G. ; Chung, Wendy K. ; Alkuraya, Fowzan Sami ; Shalbafan, Bita ; Markus, Hugh S. ; Houlden, Henry ; Maroofian, Reza
In eBioMedicine September 2024 107
Academic Journal
Reza Maroofian; Rauan Kaiyrzhanov; Elisa Calì; Mina Zamani; Maha S. Zaki; Matteo P. Ferla; Domenico Tortora; Saeid Sadeghian; Saadia Maryam Saadi; Uzma Abdullah; Ehsan Ghayoor Karimiani; Stéphanie Efthymiou; Gözde Yeşil; Shahryar Alavi; Aisha M. Al Shamsi; Homa Tajsharghi; Mohamed S. Abdel‐Hamid; Nebal Waill Saadi; Fuad Al Mutairi; Lama AlAbdi; Christian Beetz; Zafar Ali; Mehran Beiraghi Toosi; Sabine Rudnik‐Schöneborn; Meisam Babaei; Pirjo Isohanni; Jameel Muhammad; Sheraz Khan; Maha Al Shalan; Scott E. Hickey; Daphna Marom; Emil Elhanan; Manju A. Kurian; Dana Marafi; Alihossein Saberi; Mohammad Hamid; Robert Spaull; Linyan Meng; Seema R. Lalani; Shazia Maqbool; Fatima Rahman; Jürgen Seeger; Timothy Blake Palculict; Tracy Lau; David Murphy; Niccolò E. Mencacci; Katharina Steindl; Anaïs Begemann; Anita Rauch; Sinan Akbas; Ayça Dilruba Aslanger; Vincenzo Salpietro; Hammad Yousaf; Shay Ben‐Shachar; Katarina Ejeskär; Aida I Al Aqeel; Frances A. High; Amy Armstrong‐Javors; Seyed Mohammadsaleh Zahraei; Tahereh Seifi; Jawaher Zeighami; Gholamreza Shariati; Alireza Sedaghat; Samaneh Noroozi Asl; Mohmmad Shahrooei; Giovanni Zifarelli; Lydie Bürglen; Claudia Ravelli; Johannes Zschocke; Ulrich A. Schatz; Maryam Ghavideldarestani; Walaa A. Kamel; Hilde Van Esch; Annette Hackenberg; Jenny C. Taylor; Lihadh Al‐Gazali; Peter Bauer; Joseph J Gleeson; Fowzan S. Alkuraya; James R. Lupski; Hamid Galehdari; Reza Azizi Malamiri; Wendy K. Chung; Shahid Mahmood Baig; Henry Houlden; Mariasavina Severino
Brain
Academic Journal
Kenney-Jung, Daniel ; Korlimarla, Aditi ; Spiridigliozzi, Gail A. ; Wiggins, Walter ; Malinzak, Michael ; Nichting, Gretchen ; Jung, Seung-Hye ; Sun, Angela ; Wang, Raymond Y. ; Al Shamsi, Aisha ; Phornphutkul, Chanika ; Owens, James ; Provenzale, James M. ; Kishnani, Priya S.
In Molecular Genetics and Metabolism February 2024 141(2)
Academic Journal
Ahmed H. Al-Amri; Paul Armstrong; Mascia Amici; Clémence Ligneul; James Rouse; Mohammed E. El‐Asrag; Andreea Pantiru; Valerie E. Vancollie; Hannah Wai Yiu Ng; Jennifer A. Ogbeta; Kirstie Goodchild; Jacob Ellegood; Christopher J. Lelliott; Jonathan Mullins; Amanda Bretman; Ruslan Al‐Ali; Christian Beetz; Lihadh Al‐Gazali; Aisha M. Al‐Shamsi; Jason P. Lerch; Jack R. Mellor; Abeer Al Sayegh; Manir Ali; Chris F. Inglehearn; Steven J. Clapcote
Biol Psychiatry
Al -Amri, A H, Armstrong, P, Amici, M , Ligneul, C, Mellor, J R & Clapcote, S J 2022, 'PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice and Fruit Flies', Biological Psychiatry, vol. 92, no. 4, pp. 323-334. https://doi.org/10.1016/j.biopsych.2021.12.017
Academic Journal
Journal of Pediatric Genetics. 13:215-222
Academic Journal
Aida M. Bertoli‐Avella; Krishna Kumar Kandaswamy; Suliman Khan; Natalia Ordonez‐Herrera; Kornélia Tripolszki; Christian Beetz; María Eugenia Rocha; Alize Urzi; Ronja Hotakainen; Anika Leubauer; Ruslan Al‐Ali; Vasiliki Karageorgou; Oana Moldovan; Patrícia Dias; Amal Alhashem; Brahim Tabarki; Mohammed Albalwi; Abdulrahman Alswaid; Zuhair N. Al‐Hassnan; Malak Alghamdi; Zahra Hadipour; Fatemeh Hadipour; Nadia Al Hashmi; Lihadh Al‐Gazali; Huma Arshad Cheema; Maha S. Zaki; Irina Hüning; Ahmed Alfares; Wafaa Eyaid; Fuad Al Mutairi; Majid Alfadhel; Fowzan S. Alkuraya; Nouriya Al‐Sannaa; Aisha M. Al‐Shamsi; Najim Ameziane; Arndt Rolfs; Péter Bauer
Genet Med
Academic Journal
Hanadi A. Abdelrahman; Nadia Akawi; Aisha M. Al‐Shamsi; Amanat Ali; Fatma Al‐Jasmi; Anne John; Jozef Hertecant; Lihadh Al‐Gazali; Bassam R. Ali
Clinical Genetics. 101:403-410
Academic Journal
Aida M. Bertoli-Avella; Christian Beetz; Najim Ameziane; Maria Eugenia Rocha; Pilar Guatibonza; Catarina Pereira; Maria Calvo; Natalia Herrera-Ordonez; Monica Segura-Castel; Dan Diego-Alvarez; Michal Zawada; Krishna K. Kandaswamy; Martin Werber; Omid Paknia; Susan Zielske; Dimitar Ugrinovski; Gitte Warnack; Kapil Kampe; Marius-Ionuț Iurașcu; Claudia Cozma; Florian Vogel; Amal Alhashem; Jozef Hertecant; Aisha M. Al-Shamsi; Abdulrahman Faiz Alswaid; Wafaa Eyaid; Fuad Al Mutairi; Ahmed Alfares; Mohammed A. Albalwi; Majid Alfadhel; Nouriya Abbas Al-Sannaa; Willie Reardon; Yasemin Alanay; Arndt Rolfs; Peter Bauer
Eur J Hum Genet
Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Ghayoor Karimiani, Ehsan; Efthymiou, Stephanie; Yeşil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Sheraz, Khan; Al Shalan, Maha; Hickey, Scott E; et al; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita
Academic Journal
Journal of Molecular Neuroscience. 70:320-327
Academic Journal
Blackburn, Alexandria T.M. ; Bekheirnia, Nasim ; Uma, Vanessa C. ; Corkins, Mark E. ; Xu, Yuxiao ; Rosenfeld, Jill A. ; Bainbridge, Matthew N. ; Yang, Yaping ; Liu, Pengfei ; Madan-Khetarpal, Suneeta ; Delgado, Mauricio R. ; Hudgins, Louanne ; Krantz, Ian ; Rodriguez-Buritica, David ; Wheeler, Patricia G. ; Al-Gazali, Lihadh ; Mohamed Saeed Mohamed Al Shamsi, Aisha ; Gomez-Ospina, Natalia ; Chao, Hsiao-Tuan ; Mirzaa, Ghayda M. ; Scheuerle, Angela E. ; Kukolich, Mary K. ; Scaglia, Fernando ; Eng, Christine ; Willsey, Helen Rankin ; Braun, Michael C. ; Lamb, Dolores J. ; Miller, Rachel K. ; Bekheirnia, Mir Reza
In Genetics in Medicine December 2019 21(12):2755-2764
Academic Journal
Guissart, Claire ; Latypova, Xenia ; Rollier, Paul ; Khan, Tahir N. ; Stamberger, Hannah ; McWalter, Kirsty ; Cho, Megan T. ; Kjaergaard, Susanne ; Weckhuysen, Sarah ; Lesca, Gaetan ; Besnard, Thomas ; Õunap, Katrin ; Schema, Lynn ; Chiocchetti, Andreas G. ; McDonald, Marie ; de Bellescize, Julitta ; Vincent, Marie ; Van Esch, Hilde ; Sattler, Shannon ; Forghani, Irman ; Thiffault, Isabelle ; Freitag, Christine M. ; Barbouth, Deborah Sara ; Cadieux-Dion, Maxime ; Willaert, Rebecca ; Guillen Sacoto, Maria J. ; Safina, Nicole P. ; Dubourg, Christèle ; Grote, Lauren ; Carré, Wilfrid ; Saunders, Carol ; Pajusalu, Sander ; Farrow, Emily ; Boland, Anne ; Karlowicz, Danielle Hays ; Deleuze, Jean-François ; Wojcik, Monica H. ; Pressman, Rena ; Isidor, Bertrand ; Vogels, Annick ; Van Paesschen, Wim ; Al-Gazali, Lihadh ; Al Shamsi, Aisha Mohamed ; Claustres, Mireille ; Pujol, Aurora ; Sanders, Stephan J. ; Rivier, François ; Leboucq, Nicolas ; Cogné, Benjamin ; Sasorith, Souphatta ; Sanlaville, Damien ; Retterer, Kyle ; Odent, Sylvie ; Katsanis, Nicholas ; Bézieau, Stéphane ; Koenig, Michel ; Davis, Erica E. ; Pasquier, Laurent ; Küry, Sébastien
In The American Journal of Human Genetics 3 May 2018 102(5):744-759
Academic Journal
Ramakrishna, Navin B. ; Mohamad Sahari, Umar Bin ; Johmura, Yoshikazu ; Ali, Nur Ain ; Alghamdi, Malak ; Bauer, Peter ; Khan, Suliman ; Ordoñez, Natalia ; Ferreira, Mariana ; Pinto Basto, Jorge ; Alkuraya, Fowzan S. ; Faqeih, Eissa Ali ; Mori, Mari ; Almontashiri, Naif A.M. ; Al Shamsi, Aisha ; ElGhazali, Gehad ; Abu Subieh, Hala ; Al Ojaimi, Mode ; El-Hattab, Ayman W. ; Said Al-Kindi, Said Ahmed ; Alhashmi, Nadia ; Alhabshan, Fahad ; Al Saman, Abdulaziz ; Tfayli, Hala ; Arabi, Mariam ; Khalifeh, Simone ; Taylor, Alan ; Alfadhel, Majid ; Jain, Ruchi ; Sinha, Shruti ; Shenbagam, Shruti ; Ramachandran, Revathy ; Altunoğlu, Umut ; Jacob, Anju ; Thalange, Nandu ; El Bejjani, Mireille ; Perrin, Arnaud ; Shin, Jay W. ; Al-Maawali, Almundher ; Al-Shidhani, Azza ; Al-Futaisi, Amna ; Rabea, Fatma ; Chekroun, Ikram ; Almarri, Mohamed A. ; Ohta, Tomohiko ; Nakanishi, Makoto ; Alsheikh-Ali, Alawi ; Ali, Fahad R. ; Bertoli-Avella, Aida M. ; Reversade, Bruno ; Abou Tayoun, Ahmad
In The American Journal of Human Genetics 1 May 2025 112(5):1233-1246
Academic Journal
Salma Ben-Salem; Sarah M Robbins; Nara LM Sobreira; Angeline Lyon; Aisha M Al-Shamsi; Barira K Islam; Nadia A Akawi; Anne John; Pramathan Thachillath; Sania Al Hamed; David Valle; Bassam R Ali; Lihadh Al-Gazali
Journal of Medical Genetics. 55:122-130
Academic Journal
Nesrin Gariballa; Afif Ben‐Mahmoud; Makanko Komara; Aisha M. Al‐Shamsi; Anne John; Bassam R. Ali; Lihadh Al‐Gazali
American Journal of Medical Genetics Part A. 173:1257-1263
Academic Journal
Nesreen K. Al-Jezawi; Aisha M. Al-Shamsi; Jehan Suleiman; Salma Ben-Salem; Anne John; Ranjit Vijayan; Bassam R. Ali; Lihadh Al-Gazali
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-11 (2018)
Academic Journal
Zhang, Jing; Gambin, Tomasz; Yuan, Bo; Szafranski, Przemyslaw; Rosenfeld, Jill; Al Balwi, Mohammed; Alswaid, Abdulrahman; Al-Gazali, Lihadh; Al Shamsi, Aisha M; Komara, Makanko; Ali, Bassam; Roeder, Elizabeth; Mcauley, Laura; Roy, Daniel; Manchester, David; Magoulas, Pilar; King, Lauren; Hannig, Vickie; Bonneau, Dominique; Denommé-Pichon, Anne-Sophie; Charif, Majida; Besnard, Thomas; Bezieau, Stéphane; Cogné, Benjamin; Andrieux, Joris; Zhu, Wenmiao; He, Weimin; Vetrini, Francesco; Ward, Patricia; Wai Cheung, Sau; Bi, Weimin; Eng, Christine; Lupski, James; Yang, Yaping; Patel, Ankita; Lalani, Seema; Xia, Fan; Stankiewicz, Paweł
Human Genetics. 136:377-386
Academic Journal
Francesco Vetrini; Shane McKee; Jill A. Rosenfeld; Mohnish Suri; Andrea M. Lewis; Kimberly Margaret Nugent; Elizabeth Roeder; Rebecca O. Littlejohn; Sue Holder; Wenmiao Zhu; Joseph T. Alaimo; Brett Graham; Jill M. Harris; James B. Gibson; Matthew Pastore; Kim L. McBride; Makanko Komara; Lihadh Al-Gazali; Aisha Al Shamsi; Elizabeth A. Fanning; Klaas J. Wierenga; Daryl A. Scott; Ziva Ben-Neriah; Vardiella Meiner; Hanoch Cassuto; Orly Elpeleg; J. Lloyd Holder; Lindsay C. Burrage; Laurie H. Seaver; Lionel Van Maldergem; Sonal Mahida; Janet S. Soul; Margaret Marlatt; Ludmila Matyakhina; Julie Vogt; June-Anne Gold; Soo-Mi Park; Vinod Varghese; Anne K. Lampe; Ajith Kumar; Melissa Lees; Muriel Holder-Espinasse; Vivienne McConnell; Birgitta Bernhard; Ed Blair; Victoria Harrison; The DDD study; Donna M. Muzny; Richard A. Gibbs; Sarah H. Elsea; Jennifer E. Posey; Weimin Bi; Seema Lalani; Fan Xia; Yaping Yang; Christine M. Eng; James R. Lupski; Pengfei Liu
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Academic Journal
Mohammad K. Eldomery; Zeynep C. Akdemir; F.-Nora Vögtle; Wu-Lin Charng; Patrycja Mulica; Jill A. Rosenfeld; Tomasz Gambin; Shen Gu; Lindsay C. Burrage; Aisha Al Shamsi; Samantha Penney; Shalini N. Jhangiani; Holly H. Zimmerman; Donna M. Muzny; Xia Wang; Jia Tang; Ravi Medikonda; Prasanna V. Ramachandran; Lee-Jun Wong; Eric Boerwinkle; Richard A. Gibbs; Christine M. Eng; Seema R. Lalani; Jozef Hertecant; Richard J. Rodenburg; Omar A. Abdul-Rahman; Yaping Yang; Fan Xia; Meng C. Wang; James R. Lupski; Chris Meisinger; V. Reid Sutton
Genome Medicine, Vol 8, Iss 1, Pp 1-13 (2016)
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[검색어] Al-Shamsi, Aisha M.
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