학술논문
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'학술논문'
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1~20
Academic Journal
Murthy, Harsha; Hoang, Ny; Stark, Jamie C.; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L.; Lewis, M. E. Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A.; Craigen, William J.; Burrage, Lindsay C.; Christie, Michelle R.; Baldwin, Deborah; Wentzensen, Ingrid M.; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M.; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A.; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M.; Dowling, James J.; Mendoza-Londono, Roberto; Scherer, Stephen W.; Deshwar, Ashish R.; Vorstman, Jacob
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Alhaddad, Mariam E. ; Mohammad, Anwar ; Dashti, Khadija M. ; John, Sumi Elsa ; Bahbahani, Yousif ; Abu-Farha, Mohamed ; Abubaker, Jehad ; Thanaraj, Thangavel Alphonse ; Bastaki, Laila ; Al-Mulla, Fahd ; Al-Ali, Mohammad ; Ali, Hamad
In Heliyon 15 July 2024 10(13)
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Asma AlTawari; Mohammad Zakaria; Walaa Kamel; Nayera Shaalan; Gamal Ahmed Ismail Elghazawi; Mohamed Esmat Anwar Ali; Dalia Salota; Amr Attia; Ehab Elsayed Ali Elanay; Osama Shalaby; Fatema Alqallaf; Vesna Mitic; Laila Bastaki
Neurology International, Vol 16, Iss 3, Pp 631-642 (2024)
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Smits, Daphne J; Schot, Rachel; Krusy, Nathalie; Wiegmann, Katja; Utermöhlen, Olaf; Mulder, Monique T; den Hoedt, Sandra; Yoon, Grace; Deshwar, Ashish R; Kresge, Christina; Pletcher, Beth; van Mook, Maura; Ferreira, Marta Serio; Poot, Raymond A; Slotman, Johan A; Kremers, Gert-Jan; Ahmad, Abeer; Albash, Buthaina; Bastaki, Laila; Marafi, Dana; Dekker, Jordy; van Ham, Tjakko J; Nguyen, Laurent; Mancini, Grazia M S
Brain
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Alsharhan, Hind; Ahmed, Amir A.; Abdullah, Marwa; Almaie, Moudhi; Marafie, Makia J.; Sulaiman, Ibrahim; Elshafie, Reem M.; Alahmad, Ahmad; Alshammari, Asma; Cyril, Parakkal Xavier; Elkazzaz, Usama M.; Ibrahim, Samia M.; Elghitany, Mohamed; Salloum, Ayman M.; Yassen, Fahmy; Alsafi, Rasha; Bastaki, Laila; Albash, Buthaina
International Journal of Neonatal Screening. March, 2025, Vol. 11 Issue 1
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Elshafie, Reem M.; Lin, Yeu-Farn; Pecora, Isabella; Buddle, Evan R. S.; Ali, Nawal Y.; Marafi, Dana; Alshammari, Asmaa M.; Sadik, Doaa I.; Elshafey, Alaa Eldin; Bastaki, Laila; Bernard, Daniel J.; Alsharhan, Hind
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AlTawari, Asma; Zakaria, Mohammad; Kamel, Walaa A.; Shaalan, Nayera; Elghazawi, Gamal Ahmed Ismail; Ali, Mohamed Esmat Anwar; Salota, Dalia; Attia, Amr; Elanany, Ehab Elsayed Ali; Shalaby, Osama; Alqallaf, Fatema; Mitic, Vesna; Bastaki, Laila
Neurology International. January, 2025, Vol. 17 Issue 1
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Elbashir, Haitham; Fathalla, Waseem; Mundada, Vivek; Iqbal, Mehtab; Al Tawari, Asmaa A; Chandratre, Saleel; Bastaki, Laila; Romany, Ingy; Ismayl, Omar; Abou Tayoun, Ahmad
J Neuromuscul Dis
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Maryam Aburezq; Ahmad Alahmad; Rasha Alsafi; Asma Al-Tawari; Dina Ramadan; Magdy Shafik; Omar Abdelaty; Nawal Makhseed; Reem Elshafie; Mariam Ayed; Abrar Hayat; Fatima Dashti; Dana Marafi; Buthaina Albash; Laila Bastaki; Hind Alsharhan
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
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Fatima Alabdulrazzaq; Talal Alanzi; Haya H. Al‐Balool; Alice Gardham; Emma Wakeling; Harry G. Leitch; Moeenaldeen AlSayed; Maha Abdulrahim; Abdulaziz Aladwani; Antonio Romito; Kapil Kampe; Sacha Ferdinandusse; Ashraf H. Aboelanine; Amira Abdullah; Amal Alwadani; Laila Bastaki; Frédéric M. Vaz; Aida M. Bertoli‐Avella; Dana Marafi
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
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Adoukonou, Thierry ; Aryani, Omid ; Barisic, Nina ; Bashiri, Fahad ; Bastaki, Laila ; Benitto, Afaf ; Omran, Tawfeg Ben ; Bernert, Guenther ; Bertini, Enrico ; Borde, Patricia ; Born, Peter ; Boustani, Rose-Mary ; Butoianu, Nina ; Castiglioni, Claudia ; Catibusic, Feriha ; Chan, Sophelia ; Chien, Yin Hsiu ; Christodoulou, Kyproula ; Dejsuphong, Donniphat ; Farrar, Michelle ; Filip, Duma ; Goemans, Nathalie ; Guinhouya, Kokou ; Haberlova, Jana ; Hadzsiev, Kinga ; Hovhannesyan, Kristine ; Isohanni, Pirjo ; Radovic, Nelica Ivanovic ; Jacquier, David ; Jalloh, Alusine ; Jedrzejowska, Maria ; Kandawasvika, Gwen ; Kaputu, Celestin ; Kawatu, Nfwama ; Kernohan, Kristin ; Kirschner, Jan ; Klink, Barbara ; Kodsy, Sherry ; Kouame-Assouan, Ange-Eric ; Kravljanac, Ruzica ; Kreile, Madara ; Litvinenko, Ivan ; McMillan, Hugh ; Mesa, Sandra ; Mohamed, Inaam ; Kanzoska, Liljana Muaremoska ; Nevo, Yoram ; Nguefack, Seraphin ; Nkole, Kafula ; O'Grady, Gina ; O'Rourke, Declan ; Oskoui, Maryam ; Piazzon, Flavia ; Poddighe, Dimitri ; Prasauskiene, Audrone ; Prieto, Juan ; Rasmussen, Magnhild ; Razafindrasata, Santara ; Saha, Narayan ; Saito, Kayoko ; Sakadi, Foksouna ; Sangare, Modibo ; Schroth, Mary ; Shalkevich, Leanid ; Shatillo, Andriy ; Suthar, Renu ; Szabo, Lena ; Tatishvili, Nana ; Tazir, Meriem ; Tizzano, Eduardo ; Topaloglu, Haluk ; Tulinius, Mar ; van der Pol, Ludo ; Vazquez, Gabriel ; Vlodavets, Dimitry ; Wanigasinghe, Jithangi ; Wilmshurst, Jo ; Xiong, Hui ; Zafeiriou, Dimitrios ; Zamba, Eleni ; Dangouloff, Tamara ; Vrščaj, Eva ; Servais, Laurent ; Osredkar, Damjan
In Neuromuscular Disorders June 2021 31(6):574-582
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Alsharhan, Hind; Alkurd, Fay; Ebrahim, Mohammad A.; Ali, Nawal Y.; Ali, Alshyamaa A.; Elshafie, Reem M.; Ramadan, Dina G.; Abdulmalek, Kefaya; Dhaunsi, Gursev S.; Albash, Buthaina; Bastaki, Laila
American Journal of Medical Genetics. Part A; Oct2025, Vol. 197 Issue 10, p1-11, 11p
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Tayoun, Ahmad Abou; Aradhya, Swaroop; Bailey, Mitch; Bastaki, Laila; Dosenovic, Sara; Ezgü, Fatih; Izzo, Emmanuela; Lampe, Christina; O'Byrne, James J.; Seratti, Guillermo; Snow, Catherine; Staufner, Christian; Striano, Pasquale
Genetics in Medicine Open. 1(1)
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Haag, Natja; Tan, Ene-Choo; Begemann, Matthias; Buschmann, Lars; Kraft, Florian; Holschbach, Petra; Lai, Angeline H. M.; Brett, Maggie; Mochida, Ganeshwaran H.; DiTroia, Stephanie; Pais, Lynn; Neil, Jennifer E.; Al-Saffar, Muna; Bastaki, Laila; Walsh, Christopher A.; Kurth, Ingo; Knopp, Cordula
European Journal of Human Genetics. 29(11):1663-1668
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Fatme AlAnouti; Amar Sabri Ahmad; Laila Abdel Wareth; Ayesha Al Dhaheri; Abderrahim Oulhaj; Abdulla Al Junaibi; Abdullah Al Naeemi; Aisha Al Hamiz; Ayesha Al Hosani; Eiman Al Zaabi; Fatima Mezhal; Fatma Al Maskari; Habiba Alsafar; Jamila Yaaqoub; Marina Al Bastaki; Mohammed Al Houqani; Naima Oumeziane; Nirmin F. Juber; Scott Sherman; Syed M. Shah; Teeb Alsharid; Thekra Al Zaabi; Tom Loney; Wael Al Mahmeed; Abdishakur Abdulle; Raghib Ali
Frontiers in Endocrinology, Vol 13 (2022)
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Jumah, Mohammed Al; Muhaizea, Mohammad Al; Rumayyan, Ahmed Al; Saman, Abdulaziz Al; Shehri, Ali Al; Cupler, Edward; Jan, Mohammed; Madani, Abubaker Al; Fathalla, Waseem; Kashyape, Pawan; Kodavooru, Gururaj; Thihli, Khalid Al; Bastaki, Laila; Megarbane, Andre; Skrypnyk, Cristina; Zamani, Gholamreza; Tuffery-Giraud, Sylvie; Urtizberea, Andoni; Ortez González, Carlos Ignacio
Neurodegener Dis Manag
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Scott, Eric M.; Halees, Anason; Itan, Yuval; Spencer, Emily G.; He, Yupeng; Azab, Mostafa Abdellateef; Gabriel, Stacey B.; Belkadi, Aziz; Boisson, Bertrand; Abel, Laurent; Clark, Andrew G.; Rahim, Sohair Abdel; Abdel Hadi, Sawsan; Abdel Salam, Ghada; Abdel Salam, Ekram; Abdou, Mohammed; Abhytankar, Avinash; Adimi, Parisa; Ahmad, Jamil; Akcakus, Mustafa; Aksu, Guside; Al Hajjar, Sami; Al Juamaah, Suliman; Al Muhsen, Saleh; Al Sannaa, Nouriya; Al Tameni, Salem; Al Aama, Jumana; Al Allawi, Nasir; Al Baradie, Raidah; Al Gazali, Lihadh; Al Hashem, Amal; Al Herz, Waleed; Al Jeaid, Deema; Al Tawari, Asma; Alangari, Abdullah; Alcais, Alexandre; Alfawaz, Tariq S.; Alsum, Zobaida; Ammar Khodja, Aomar; Amouian, Sepideh; Arikan, Cigdem; Aryani, Omid; Aslanger, Ayca; Aydogmus, Cigdem; Aytekin, Caner; Azam, Matloob; Bansagi, Boglarka; Barbouche, Mohamed Rhida; Bastaki, Laila; Ben Omran, Tawfeg; Bindu, Parayil Sankaran; Blancas, Lizbeth; Boisson Dupuis, Stéphanie; Bonnet, Damien; Stambouli, Omar Boudghene; Bousfiha, Aziz; Boussafara, Lobna; Boutros, Jeannette; Bustamante, Jacinta; Caksen, Huseyin; Camcioglu, Yildiz; Catherinot, Emilie; Celik, Fatma C.; Ciancanelli, Michael; Cipe, Funda E.; Clark, Gary; Cobat, Aurélie; Comu, Sinan; Condie, Angela; Condino Neto, Antonio; Desai, Mukesh; Dobyns, William; Dogu, Figen; Domaia, Mohamed; Dorum, Meltem; Egritas, Odul; El Azbaoui, Safa; El Baghdadi, Jamila; El Ruby, Mona; El Harouni, Ashraf; Elfeky, Reem A.; Elghazali, Gehad; Faqeih, Eissa; Fenerci, Elif; Fieschi, Claire; Funda, Cipe; Gamal, Iman; Gelik, Umit; Genel, Fetah; Gezdirici, Alper; Girisha, Katta M.; Goldstein, Amy; Grattan Smith, Padraic; Gupta, Neerja; Hahn, Jin; Hatipoglu, Nevin; Hennekam, Raoul; Houshmand, Massoud; Ichai, Philippe; Ikinciogullari, Aydan; Ismail, Samira; Jalas, Chaim; Jouanguy, Emmanuelle; Kabra, Madhulika; Kalkan, Göknur; Kara, Majdi; Karaca, Neslihan; Karaer, Kadri; Kariminejad, Ariana; Kayserili, Hulya; Keser Emiroglu, Melike; Kilic, Sara S.; Kissani, Najib; Kokron, Cristina; Koul, Roshan; Kutukculer, Necil; Lanternier, Fanny; Mahdaviani, Alireza; Mahlaoui, Nizar; Mansour, Lobna; Mansouri, Davood; MARGARI, Lucia; Valente, Enza Maria; Marzouki, Naima; Masri, Amira; Megahed, Amina; Megahed, Hisham; Mekki, Najla; Mesdaghi, Mehrnaz; Mikati, Mohd; Mojahedi, Faezeh; Mulley, John; Nampoothiri, Sheela; Navarrete, Carmen; Omar, Tarek; Oraby, Azza; Pandaluz, Ayse; Parvaneh, Nima; Patiroglu, Turkan; Koc, Zeynep Peker; Pellier, Isabelle; Picard, Capucine; Puel, Anne; Raas Rothschild, Annick; Rajab, Anna; Raoult, Didier; Reisli, Ismail; Rezaei, Nima; Sabri, Ayoub; Sahin, Yasin; Saleem, Laila; Salem, Fadia; Alsediq, Najla Sameer; Sanal, Ozden; Sanger, Terry; Shakankiry, Hanan; Shang, Lei; Shehata, Nabil; Shembesh, Nuri; Shkalim, Vared; Softah, Ameen; Sogaty, Sameera; Soliman, Neveen; Sonmez Aunaci, Fatma; Sztriha, Laszlo; Taibi Berrah, Lynda; Temtamy, Samia; Tonekaboni, Hasan; Trauner, Doris; Tuysuz, Beyhan; Varan, Ali; Vogt, Guillaume; Walsh, Christopher; Woods, Geoffrey; Yesil, Gozde; Yildiran, Alisan; Yildiz, Basak; Yuksel, Adnan; Zaki, Maha; Zhang, Shen Ying
Nat Genet
Academic Journal
Fawziah M. A Mohammed; Massoud Houshmand; Mehdi Shafa Shariat Panahi; Laila Bastaki; Kamal Naguib; Baharak Hooushiar Kashani; Anna Olivieri; Vajihozaman Khalili
Genes & Genomics / Korean journal of genetics. Sep 30, 2006 28(3):261
Academic Journal
Inman, Claire K.; Aljunaibi, Abdullah; Koh, Hyunwook; Abdulle, Abdishakur; Ali, Raghib; Alnaeemi, Abdullah; Al Zaabi, Eiman; Oumeziane, Naima; Al Bastaki, Marina; Al-Houqani, Mohammed; Al-Maskari, Fatma; Al Dhaheri, Ayesha; Shah, Syed M.; Abdel Wareth, Laila; Al Mahmeed, Wael; Alsafar, Habiba; Al Anouti, Fatme; Al Hosani, Ayesha; Haji, Muna; Galani, Divya; O'Connor, Matthew J.; Ahn, Jiyoung; Kirchhoff, Tomas; Sherman, Scott; Hayes, Richard B.; Li, Huilin; Ramasamy, Ravichandran; Schmidt, Ann Marie
Journal of Clinical & Translational Endocrinology. 10:1-8
Academic Journal
Akizu, Naiara; Cantagrel, Vincent; Zaki, Maha S.; Al-Gazali, Lihadh; Wang, Xin; Rosti, Rasim Ozgur; Dikoglu, Esra; Gelot, Antoinette Bernabe; Rosti, Basak; Vaux, Keith K.; Scott, Eric M.; Silhavy, Jennifer L.; Schroth, Jana; Copeland, Brett; Schaffer, Ashleigh E.; Gordts, Philip L. S. M.; Esko, Jeffrey D.; Buschman, Matthew D.; Field, Seth J.; Napolitano, Gennaro; Abdel-Salam, Ghada M.; Ozgul, R Koksal; Saglroglu, Mahmut Samil; Azam, Matloob; Ismail, Samira; Aglan, Mona; Selim, Laila; Mahmoud, Iman G.; Abdel-Hadi, Sawsan; Badawy, Amera El; Sadek, Abdelrahim A.; Mojahedi, Faezeh; Kayserili, Hulya; Masri, Amira; Bastaki, Laila; Temtamy, Samia; Müller, Ulrich; Desguerre, Isabelle; Casanova, Jean-Laurent; Dursun, Ali; Gunel, Murat; Gabriel, Stacey B.; De Lonlay, Pascale; Gleeson, Joseph G.
Nat Genet
Nature Genetics, vol 47, iss 5
Nature Genetics
Nature Genetics, vol 47, iss 5
Nature Genetics
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