학술논문
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'학술논문'
에서 검색결과 89건 | 목록
1~20
Academic Journal
Dharmadhikari, Avinash V.; Abad, Maria Alba; Khan, Sheraz; Maroofian, Reza; Sands, Tristan T.; Ullah, Farid; Samejima, Itaru; Shen, Yanwen; Wear, Martin A.; Moore, Kiara E.; Kondakova, Elena; Mitina, Natalia; Schaub, Theres; Lee, Grace K.; Umandap, Christine H.; Berger, Sara M.; Iglesias, Alejandro D.; Popp, Bernt; Abou Jamra, Rami; Gabriel, Heinz; Rentas, Stefan; Rippert, Alyssa L.; Gray, Christopher; Izumi, Kosuke; Conlin, Laura K.; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Hickey, Scott E.; Albert, Dara V. F.; Norwood, Haley; Lewanda, Amy Feldman; Dai, Hongzheng; Liu, Pengfei; Mitani, Tadahiro; Marafi, Dana; Eker, Hatice Koçak; Pehlivan, Davut; Posey, Jennifer E.; Lippa, Natalie C.; Vena, Natalie; Heinzen, Erin L.; Goldstein, David B.; Mignot, Cyril; de Sainte Agathe, Jean-Madeleine; Al-Sannaa, Nouriya Abbas; Zamani, Mina; Sadeghian, Saeid; Azizimalamiri, Reza; Seifia, Tahere; Zaki, Maha S.; Abdel-Salam, Ghada M. H.; Abdel-Hamid, Mohamed S.; Alabdi, Lama; Alkuraya, Fowzan Sami; Dawoud, Heba; Lofty, Aya; Bauer, Peter; Zifarelli, Giovanni; Afzal, Erum; Zafar, Faisal; Efthymiou, Stephanie; Gossett, Daniel; Towne, Meghan C.; Yeneabat, Raey; Perez-Duenas, Belen; Cazurro-Gutierrez, Ana; Verdura, Edgard; Cantarin-Extremera, Veronica; Marques, Ana do Vale; Helwak, Aleksandra; Tollervey, David; Wontakal, Sandeep N.; Aggarwal, Vimla S.; Rosenfeld, Jill A.; Tarabykin, Victor; Ohta, Shinya; Lupski, James R.; Houlden, Henry; Earnshaw, William C.; Davis, Erica E.; Jeyaprakash, A. Arockia; Liao, Jun
Nature Communications. 16(1)
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
In: American journal of human genetics . (American journal of human genetics, 4 March 2021, 108(3):392-394)
Academic Journal
Materna, Marie; Delmonte, Ottavia M.; Bosticardo, Marita; Momenilandi, Mana; Conrey, Peyton E.; Charmeteau-De Muylder, Benedicte; Bravetti, Clotilde; Bellworthy, Rebecca; Cederholm, Axel; Staels, Frederik; Ganoza, Christian A.; Darko, Samuel; Sayed, Samir; Le Floc'h, Corentin; Ogishi, Masato; Rinchai, Darawan; Guenoun, Andrea; Bolze, Alexandre; Khan, Taushif; Gervais, Adrian; Krueger, Renate; Voeller, Mirjam; Palterer, Boaz; Sadeghi-Shabestari, Mahnaz; de Septenville, Anne Langlois; Schramm, Chaim A.; Shah, Sanjana; Tello-Cajiao, John J.; Pala, Francesca; Amini, Kayla; Campos, Jose S.; Lima, Noemia Santana; Eriksson, Daniel; Levy, Romain; Seeleuthner, Yoann; Jyonouchi, Soma; Ata, Manar; Al Ali, Fatima; Deswarte, Caroline; Pereira, Anais; Megret, Jerome; Le Voyer, Tom; Bastard, Paul; Berteloot, Laureline; Dussiot, Michael; Vladikine, Natasha; Cardenas, Paula P.; Jouanguy, Emmanuelle; Alqahtani, Mashael; Hasan, Amal; Thanaraj, Thangavel Alphonse; Rosain, Jeremie; Al Qureshah, Fahd; Sabato, Vito; Alyanakian, Marie Alexandra; Leruez-Ville, Marianne; Rozenberg, Flore; Haddad, Elie; Regueiro, Jose R.; Toribio, Maria L.; Kelsen, Judith R.; Salehi, Mansoor; Nasiri, Shahram; Torabizadeh, Mehdi; Rokni-Zadeh, Hassan; Changi-Ashtiani, Majid; Vatandoost, Nasimeh; Moravej, Hossein; Akrami, Seyed Mohammad; Mazloomrezaei, Mohsen; Cobat, Aurelie; Meyts, Isabelle; Toyofuku, Etsushi; Nishimura, Madoka; Moriya, Kunihiko; Mizukami, Tomoyuki; Imai, Kohsuke; Abel, Laurent; Malissen, Bernard; Al-Mulla, Fahd; Alkuraya, Fowzan Sami; Parvaneh, Nima; von Bernuth, Horst; Beetz, Christian; Davi, Frederic; Douek, Daniel C.; Cheynier, Remi; Langlais, David; Landegren, Nils, 1986; Marr, Nico; Morio, Tomohiro; Shahrooei, Mohammad; Schrijvers, Rik; Henrickson, Sarah E.; Luche, Herve; Notarangelo, Luigi D.; Casanova, Jean-Laurent; Beziat, Vivien
Science. 383(6686)
Academic Journal
Iqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur ; Riccardi, Florence ; Field, Michael ; Banka, Siddharth ; Bubshait, Dalal K. ; Li, Yun ; Hertecant, Jozef ; Baig, Shahid Mahmood ; Dyment, David ; Efthymiou, Stephanie ; Abdullah, Uzma ; Makhdoom, Ehtisham Ul Haq ; Ali, Zafar ; Scherf de Almeida, Tobias ; Molinari, Florence ; Mignon-Ravix, Cécile ; Chabrol, Brigitte ; Antony, Jayne ; Ades, Lesley ; Pagnamenta, Alistair T. ; Jackson, Adam ; Douzgou, Sofia ; Ambrose, J.C. ; Arumugam, P. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; Fowler, T. ; Giess, A. ; Hamblin, A. ; Henderson, S. ; Hubbard, T.J.P. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Leigh, S.E.A. ; Leong, I.U. ; Lopez, F.J. ; Maleady-Crowe, F. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; O’Donovan, P. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; Savage, K. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smith, S.C. ; Sosinsky, A. ; Stuckey, A. ; Tanguy, M. ; Thomas, E.R.A. ; Thompson, S.R. ; Tucci, A. ; Walsh, E. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Beetz, Christian ; Karageorgou, Vasiliki ; Vona, Barbara ; Rad, Aboulfazl ; Baig, Jamshaid Mahmood ; Sultan, Tipu ; Alvi, Javeria Raza ; Maqbool, Shazia ; Rahman, Fatima ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Karimiani, Ehsan Ghayoor ; Sarwar, Yasra ; Khan, Sheraz ; Jameel, Muhammad ; Noegel, Angelika A. ; Budde, Birgit ; Altmüller, Janine ; Motameny, Susanne ; Höhne, Wolfgang ; Houlden, Henry ; Nürnberg, Peter ; Wollnik, Bernd ; Villard, Laurent ; Alkuraya, Fowzan Sami ; Osmond, Matthew ; Hussain, Muhammad Sajid ; Yigit, Gökhan
In Genetics in Medicine November 2021 23(11):2138-2149
Academic Journal
Monies, Dorota ; Abouelhoda, Mohammed ; Assoum, Mirna ; Moghrabi, Nabil ; Rafiullah, Rafiullah ; Almontashiri, Naif ; Alowain, Mohammed ; Alzaidan, Hamad ; Alsayed, Moeen ; Subhani, Shazia ; Cupler, Edward ; Faden, Maha ; Alhashem, Amal ; Qari, Alya ; Chedrawi, Aziza ; Aldhalaan, Hisham ; Kurdi, Wesam ; Khan, Sameena ; Rahbeeni, Zuhair ; Alotaibi, Maha ; Goljan, Ewa ; Elbardisy, Hadeel ; ElKalioby, Mohamed ; Shah, Zeeshan ; Alruwaili, Hibah ; Jaafar, Amal ; Albar, Ranad ; Akilan, Asma ; Tayeb, Hamsa ; Tahir, Asma ; Fawzy, Mohammed ; Nasr, Mohammed ; Makki, Shaza ; Alfaifi, Abdullah ; Akleh, Hanna ; Yamani, Suad ; Bubshait, Dalal ; Mahnashi, Mohammed ; Basha, Talal ; Alsagheir, Afaf ; Abu Khaled, Musad ; Alsaleem, Khalid ; Almugbel, Maisoon ; Badawi, Manal ; Bashiri, Fahad ; Bohlega, Saeed ; Sulaiman, Raashida ; Tous, Ehab ; Ahmed, Syed ; Algoufi, Talal ; Al-Mousa, Hamoud ; Alaki, Emadia ; Alhumaidi, Susan ; Alghamdi, Hadeel ; Alghamdi, Malak ; Sahly, Ahmed ; Nahrir, Shapar ; Al-Ahmari, Ali ; Alkuraya, Hisham ; Almehaidib, Ali ; Abanemai, Mohammed ; Alsohaibaini, Fahad ; Alsaud, Bandar ; Arnaout, Rand ; Abdel-Salam, Ghada M.H. ; Aldhekri, Hasan ; AlKhater, Suzan ; Alqadi, Khalid ; Alsabban, Essam ; Alshareef, Turki ; Awartani, Khalid ; Banjar, Hanaa ; Alsahan, Nada ; Abosoudah, Ibraheem ; Alashwal, Abdullah ; Aldekhail, Wajeeh ; Alhajjar, Sami ; Al-Mayouf, Sulaiman ; Alsemari, Abdulaziz ; Alshuaibi, Walaa ; Altala, Saeed ; Altalhi, Abdulhadi ; Baz, Salah ; Hamad, Muddathir ; Abalkhail, Tariq ; Alenazi, Badi ; Alkaff, Alya ; Almohareb, Fahad ; Al Mutairi, Fuad ; Alsaleh, Mona ; Alsonbul, Abdullah ; Alzelaye, Somaya ; Bahzad, Shakir ; Manee, Abdulaziz Bin ; Jarrad, Ola ; Meriki, Neama ; Albeirouti, Bassem ; Alqasmi, Amal ; AlBalwi, Mohammed ; Makhseed, Nawal ; Hassan, Saeed ; Salih, Isam ; Salih, Mustafa A. ; Shaheen, Marwan ; Sermin, Saadeh ; Shahrukh, Shamsad ; Hashmi, Shahrukh ; Shawli, Ayman ; Tajuddin, Ameen ; Tamim, Abdullah ; Alnahari, Ahmed ; Ghemlas, Ibrahim ; Hussein, Maged ; Wali, Sami ; Murad, Hatem ; Meyer, Brian F. ; Alkuraya, Fowzan S.
In The American Journal of Human Genetics 6 June 2019 104(6):1182-1201
Academic Journal
Chiara Mameli; Giulia Zichichi; Nasim Mahmood; Siham Chafai Elalaoui; Adnan Mirza; Poonam Dharmaraj; Marco Burrone; Elisa Cattaneo; Jayesh Sheth; Ajit Gandhi; Gurpreet Singh Kochar; Fowzan Sami Alkuraya; Madhulika Kabra; Giuseppe Mercurio; Gianvincenzo Zuccotti
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Academic Journal
Maddirevula, Sateesh ; Alhebbi, Hamoud ; Alqahtani, Awad ; Algoufi, Talal ; Alsaif, Hessa S. ; Ibrahim, Niema ; Abdulwahab, Firdous ; Barr, Mohammed ; Alzaidan, Hamad ; Almehaideb, Ali ; AlSasi, Omai ; Alhashem, Amal ; Hussaini, Hussa Al ; Wali, Sami ; Alkuraya, Fowzan S.
In Genetics in Medicine May 2019 21(5):1164-1172
Academic Journal
Ameur Ammari; Amal Alhashem; Hanen Abdelraouf; Fatma Alzahrani; Fowzan Sami Alkuraya; Brahim Tabarki
Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 43-46 (2018)
Academic Journal
Barish, Scott ; Lin, Sheng-Jia ; Maroofian, Reza ; Gezdirici, Alper ; Alhebby, Hamoud ; Trimouille, Aurélien ; Biderman Waberski, Marta ; Mitani, Tadahiro ; Huber, Ilka ; Tveten, Kristian ; Holla, Øystein L. ; Busk, Øyvind L. ; Houlden, Henry ; Ghayoor Karimiani, Ehsan ; Beiraghi Toosi, Mehran ; Shervin Badv, Reza ; Najarzadeh Torbati, Paria ; Eghbal, Fatemeh ; Akhondian, Javad ; Al Safar, Ayat ; Alswaid, Abdulrahman ; Zifarelli, Giovanni ; Bauer, Peter ; Marafi, Dana ; Fatih, Jawid M. ; Huang, Kevin ; Petree, Cassidy ; Calame, Daniel G. ; von der Lippe, Charlotte ; Alkuraya, Fowzan S. ; Wali, Sami ; Lupski, James R. ; Varshney, Gaurav K. ; Posey, Jennifer E. ; Pehlivan, Davut
In The American Journal of Human Genetics 7 November 2024 111(11):2566-2581
Academic Journal
Maram Alojair; Abdulaziz Alghamdi; Kalthoum Tlili; Sateesh Maddirevula; Fowzan Sami Alkuraya; Brahim Tabarki
Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 40-42 (2018)
Academic Journal
Sateesh Maddirevula; Hiroyuki Kuwahara; Nour Ewida; Hanan E. Shamseldin; Nisha Patel; Fatema Alzahrani; Tarfa AlSheddi; Eman AlObeid; Mona Alenazi; Hessa S. Alsaif; Maha Alqahtani; Maha AlAli; Hatoon Al Ali; Rana Helaby; Niema Ibrahim; Firdous Abdulwahab; Mais Hashem; Nadine Hanna; Dorota Monies; Nada Derar; Afaf Alsagheir; Amal Alhashem; Badr Alsaleem; Hamoud Alhebbi; Sami Wali; Ramzan Umarov; Xin Gao; Fowzan S. Alkuraya
Genome Biology, Vol 21, Iss 1, Pp 1-21 (2020)
Academic Journal
Gabriel, Elke; Wason, Arpit; Ramani, Anand; Gooi, Li Ming; Keller, Patrick; Pozniakovsky, Andrei; Poser, Ina; Noack, Florian; Telugu, Narasimha Swamy; Calegari, Federico; Šarić, Tomo; Hescheler, Jürgen; Hyman, Anthony A; Gottardo, Marco; Callaini, Giuliano; Alkuraya, Fowzan Sami; Gopalakrishnan, Jay
EMBO J
Academic Journal
Avinash V. Dharmadhikari; Maria Alba Abad; Sheraz Khan; Reza Maroofian; Tristan T. Sands; Farid Ullah; Itaru Samejima; Martin A. Wear; Kiara E. Moore; Elena Kondakova; Natalia Mitina; Theres Schaub; Grace K. Lee; Christine H. Umandap; Sara M. Berger; Alejandro D. Iglesias; Bernt Popp; Rami Abou Jamra; Heinz Gabriel; Stefan Rentas; Alyssa L Rippert; Kosuke Izumi; Laura K. Conlin; Daniel C. Koboldt; Theresa Mihalic Mosher; Scott E. Hickey; Dara V.F. Albert; Haley Norwood; Amy Feldman Lewanda; Hongzheng Dai; Pengfei Liu; Tadahiro Mitani; Dana Marafi; Davut Pehlivan; Jennifer E. Posey; Natalie Lippa; Natalie Vena; Erin L Heinzen; David B. Goldstein; Cyril Mignot; Jean-Madeleine de Sainte Agathe; Nouriya Abbas Al-Sannaa; Mina Zamani; Saeid Sadeghian; Reza Azizimalamiri; Tahere Seifia; Maha S. Zaki; Ghada M.H. Abdel-Salam; Mohamed Abdel-Hamid; Lama Alabdi; Fowzan Sami Alkuraya; Heba Dawoud; Aya Lofty; Peter Bauer; Giovanni Zifarelli; Erum Afzal; Faisal Zafar; Stephanie Efthymiou; Daniel Gossett; Meghan C. Towne; Raey Yeneabat; Sandeep N. Wontakal; Vimla S. Aggarwal; Jill A. Rosenfeld; Victor Tarabykin; Shinya Ohta; James R. Lupski; Henry Houlden; William C. Earnshaw; Erica E. Davis; A. Arockia Jeyaprakash; Jun Liao
Academic Journal
Monies, Dorota; Abouelhoda, Mohamed; AlSayed, Moeenaldeen; Alhassnan, Zuhair; Alotaibi, Maha; Kayyali, Husam; Al-Owain, Mohammed; Shah, Ayaz; Rahbeeni, Zuhair; Al-Muhaizea, Mohammad A.; Alzaidan, Hamad I.; Cupler, Edward; Bohlega, Saeed; Faqeih, Eissa; Faden, Maha; Alyounes, Banan; Jaroudi, Dyala; Goljan, Ewa; Elbardisy, Hadeel; Akilan, Asma; Albar, Renad; Aldhalaan, Hesham; Gulab, Shamshad; Chedrawi, Aziza; Al Saud, Bandar K; Kurdi, Wesam; Makhseed, Nawal; Alqasim, Tahani; El Khashab, Heba Y.; Al-Mousa, Hamoud; Alhashem, Amal; Kanaan, Imaduddin; Algoufi, Talal; Alsaleem, Khalid; Basha, Talal A.; Al-Murshedi, Fathiya; Khan, Sameena; Al-Kindy, Adila; Alnemer, Maha; Al-Hajjar, Sami; Alyamani, Suad; Aldhekri, Hasan; Al-Mehaidib, Ali; Arnaout, Rand; Dabbagh, Omar; Shagrani, Mohammad; Broering, Dieter; Tulbah, Maha; Alqassmi, Amal; Almugbel, Maisoon; AlQuaiz, Mohammed; Alsaman, Abdulaziz; Al-Thihli, Khalid; Sulaiman, Raashda A.; Al-Dekhail, Wajeeh; Alsaegh, Abeer; Bashiri, Fahad A.; Qari, Alya; Alhomadi, Suzan; Alkuraya, Hisham; Alsebayel, Mohammed; Hamad, Muddathir H; Szonyi, Laszlo; Abaalkhail, Faisal; Al-Mayouf, Sulaiman M.; Almojalli, Hamad; Alqadi, Khalid S.; Elsiesy, Hussien; Shuaib, Taghreed M.; Seidahmed, Mohammed Zain; Abosoudah, Ibraheem; Akleh, Hana; AlGhonaium, Abdulaziz; Alkharfy, Turki M.; Al Mutairi, Fuad; Eyaid, Wafa; Alshanbary, Abdullah; Sheikh, Farrukh R.; Alsohaibani, Fahad I.; Alsonbul, Abdullah; Al Tala, Saeed; Balkhy, Soher; Bassiouni, Randa; Alenizi, Ahmed S.; Hussein, Maged H.; Hassan, Saeed; Khalil, Mohamed; Tabarki, Brahim; Alshahwan, Saad; Oshi, Amira; Sabr, Yasser; Alsaadoun, Saad; Salih, Mustafa A.; Mohamed, Sarar; Sultana, Habiba; Tamim, Abdullah; El-Haj, Moayad; Alshahrani, Saif; Bubshait, Dalal K.; Alfadhel, Majid; Faquih, Tariq; El-Kalioby, Mohamed; Subhani, Shazia; Shah, Zeeshan; Moghrabi, Nabil; Meyer, Brian F.; Alkuraya, Fowzan S.
Hum Genet
Academic Journal
Abubakar, Moawia; Ranad, Shaheen; Sajida, Rasool; Syeda Seema, Waseem; Nour, Ewida; Birgit, Budde; Amit, Kawalia; Susanne, Motameny; Kamal, Khan; Ambrin, Fatima; Muhammad, Jameel; Farid, Ullah; Talia, Akram; Zafar, Ali; Uzma, Abdullah; Saba, Irshad; Wolfgang, Höhne; Angelika Anna, Noegel; Mohammed, Al-Owain; Konstanze, Hörtnagel; Petra, Stöbe; Shahid Mahmood, Baig; Peter, Nürnberg; Fowzan Sami, Alkuraya; Andreas, Hahn; Muhammad Sajid, Hussain
Annals of Neurology. 82:562-577
Academic Journal
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; Hajjar, Sami Al; Juamaah, Suliman Al; Muhsen, Saleh Al; Sannaa, Nouriya Al; Tameni, Salem Al; 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; S AlFawaz, Tariq; 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; Azbaoui, Safa El; Baghdadi, Jamila El; Ruby, Mona El; El-Harouni, Ashraf; Elfeky, Reem A; Elghazali, Gehad; Faqeih, Eissa; Fenerci, Elif; Fieschi, Claire; Funda, Cipe; Gamal, Iman; Gelik, Umit; Genel, Fetah; Gezdirici, Alper; M Girisha, Katta; 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; Alkuraya, Fowzan S; Casanova, Jean-Laurent; Gleeson, Joseph G
Nature Genetics. September, 2016, Vol. 48 Issue 9, p1071, 6 p.
Academic Journal
Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; 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-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina
Academic Journal
Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D.; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H.; Marshall, Christian R.; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R.; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C.; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J.; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J.; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M.; de Kruiff, Chris C.; Rajabi, Farrah; Rodan, Lance H.; Coury, Stephanie A.; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L.; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P.; Kraemer, Dennis; Prada, Carlos E.; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G. Christoph; Bamshad, Michael J.; Campeau, Philippe M.; Lehman, Anna; Hendon, Laura G.; Wentzensen, Ingrid M.; Monaghan, Kristin G.; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D.; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C.; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K.; Seeley, Andrea H.; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J.; Washington, Camerun; Stevens, Servi J. C.; Heijligers, Malou; Alkuraya, Fowzan S.; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P.; Kühn, Andrea A.; Thoms, Sven; Morrie, Ryan D.; Mekhoubad, Shila; Green, Eric M.; Barmada, Sami J.; Gitler, Aaron D.; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S.; Rauch, Anita; Lipstein, Noa
Nature Genetics. :1-14
Academic Journal
Alhebbi, Hamoud; Peer-Zada, Abdul Ali; Al‐Hussaini, Abdulrahman A.; Algubaisi, Sara; Albassami, Awad; AlMasri, Nasser; Alrusayni, Yasir; Alruzug, Ibrahim M.; Alharby, Essa; Samman, Manar A.; Ayoub, Syed Zubair; Maddirevula, Sateesh; Peake, Roy W. A.; Alkuraya, Fowzan S.; Wali, Sami; Almontashiri, Naif A. M.
Journal of Human Genetics. 66(2):151-159
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