학술논문
'학술논문'
에서 검색결과 49건 | 목록
1~10
Academic Journal
Academic Journal
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; Zaki, Maha S.; 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; Salpietro, Vincenzo; Maroofian, Reza; 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; 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
In The American Journal of Human Genetics 4 January 2024 111(1):200-210
Academic Journal
Schaffer, Ashleigh E; Breuss, Martin W; Caglayan, Ahmet Okay; Al-Sanaa, Nouriya; Al-Abdulwahed, Hind Y; Kaymakçalan, Hande; Yılmaz, Cahide; Zaki, Maha S; Rosti, Rasim O; Copeland, Brett; Baek, Seung Tae; Musaev, Damir; Scott, Eric C; Ben-Omran, Tawfeg; Kariminejad, Ariana; Kayserili, Hulya; Mojahedi, Faezeh; Kara, Majdi; Cai, Na; Silhavy, Jennifer L; Elsharif, Seham; Fenercioglu, Elif; Barshop, Bruce A; Kara, Bulent; Wang, Rengang; Stanley, Valentina; James, Kiely N; Nachnani, Rahul; Kalur, Aneesha; Megahed, Hisham; Incecik, Faruk; Danda, Sumita; Alanay, Yasemin; Faqeih, Eissa; Melikishvili, Gia; Mansour, Lobna; Miller, Ian; Sukhudyan, Biayna; Chelly, Jamel; Dobyns, William B; Bilguvar, Kaya; Jamra, Rami Abou; Gunel, Murat; Gleeson, Joseph G
Nature genetics. 50(8)
Periodical
Calì, Elisa; Lin, Sheng-Jia; Rocca, Clarissa; Sahin, Yavuz; Al Shamsi, Aisha; El Chehadeh, Salima; Chaabouni, Myriam; Mankad, Kshitij; Galanaki, Evangelia; Efthymiou, Stephanie; Sudhakar, Sniya; Athanasiou-Fragkouli, Alkyoni; Çelik, Tamer; Narlı, Nejat; Bianca, Sebastiano; Murphy, David; De Carvalho Moreira, Francisco Martins; Hannah, Michael G.; Bugiardini, Enrico; Kriouile, Yamna; El Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Karashova, Blagovesta Marinova; Di Rosa, Gabriella; Goraya, Jatinder S.; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Savasta, Salvatore; Ruiz, Alfons Macaya; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Compagnoni, Chiara; Piccirilli, Alessandra; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Papanicolaou, Eleni Zamba; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat Noureen; Atawneh, Osama; Lim, Shen-Yang; Shaikh, Farooq; Scardamaglia, Annarita; Koutsis, George; Mangano, Salvatore; Scuderi, Carmela; Borgione, Eugenia; Morello, Giovanna; Zollo, Massimo; Heimer, Gali; Striano, Pasquale; Al-Khawaja, Issam; Al-Mutairi, Fuad; Alkuraya, Fowzan S.; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Tucci, Arianna; Fiorillo, Chiara; Rissotto, Federico; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Cuppari, Caterina; Romeo, Carmelo; Magrinelli, Francesca; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Zagaroli, Luca; Caloisi, Claudia; Fabiano, Cecilia; Bottone, Gabriella; Farello, Giovanni; Di Fabio, Sandra; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Zaki, Maha S.; Triki, Chahnez C.; Kara, Majdi; Belcastro, Vincenzo; Specchio, Nicola; Karimiani, Ehsan G.; Salih, Ahmed M.; Ramenghi, Luca A.; David, Emanuele; Curró, Riccardo; Iezzi, Maria Laura; Iapadre, Giulia; Nanni, Giuliana; Scorrano, Giovanna; Fiorile, Maria F.; Brancati, Francesco; Di Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elia, Maurizio; Terrone, Gaetano; Operto, Francesca F.; Valenzise, Mariella; Della Rocca, Ylenia; Zazzeroni, Francesca; Alesse, Edoardo; Manti, Filippo; Galosi, Serena; Nardecchia, Francesca; Leuzzi, Vincenzo; Pironti, Erica; Amore, Greta; Ceravolo, Giorgia; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Javed, Iram; Rahman, Fatima; Ahmed, Muhammad Mehboob; Parisi, Pasquale; Borgia, Paola; Mangano, Giuseppe D.; Chiarelli, Francesco; Genomics, Queen Square; Accogli, Andrea; Petree, Cassidy; Huang, Kevin; Monastiri, Kamel; Edizadeh, Masoud; Nardello, Rosaria; Ognibene, Marzia; De Marco, Patrizia; Ruggieri, Martino; Zara, Federico; Striano, Pasquale; Şahin, Yavuz; Al-Gazali, Lihadh; Abi Warde, Marie Therese; Gerard, Benedicte; Zifarelli, Giovanni; Beetz, Christian; Fortuna, Sara; Soler, Miguel; Valente, Enza Maria; Varshney, Gaurav; Maroofian, Reza; Salpietro, Vincenzo; Houlden, Henry
Genetics in Medicine; October 2022, Vol. 24 Issue: 10 p2194-2203, 10p
Academic Journal
Guemez-Gamboa, Alicia; Akizu, Naiara; Rosti, Rasim Ozgur; Rosti, Basak; Scott, Eric; Schroth, Jana; Copeland, Brett; Vaux, Keith K; Gleeson, Joseph G; Nguyen, Long N; Quek, Debra Q Y; Wong, Bernice H; Tan, Bryan C; Silver, David L; Yang, Hongbo; Chi, Neil C; Zaki, Maha S; Kara, Majdi; Ben-Omran, Tawfeg; Cazenave-Gassiot, Amaury
Academic Journal
Wang, Lu; Li, Zhen; Sievert, David; Smith, Desirée E. C.; Mendes, Marisa I.; Chen, Dillon Y.; Stanley, Valentina; Ghosh, Shereen; Wang, Yulu; Kara, Majdi; Aslanger, Ayca Dilruba; Rosti, Rasim O.; Houlden, Henry; Salomons, Gajja S.; Gleeson, Joseph G.
Nature Communications; 2/15/2021, Vol. 12 Issue 1, p1-4, 4p
Academic Journal
Coughlin, Curtis R.; Tseng, Laura A.; Abdenur, Jose E.; Ashmore, Catherine; Boemer, François; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Clayton, Peter T.; Das, Anibh; Dekker, Hanka; Evangeliou, Athanasios; Feillet, François; Footitt, Emma J.; Gospe, Sidney M.; Hartmann, Hans; Kara, Majdi; Kristensen, Erle; Lee, Joy; Lilje, Rina
Journal of Inherited Metabolic Disease; Jan2021, Vol. 44 Issue 1, p178-192, 15p
Academic Journal
Wang, Lu; Li, Zhen; Sievert, David; Smith, Desirée E. C.; Mendes, Marisa I.; Chen, Dillon Y.; Stanley, Valentina; Ghosh, Shereen; Wang, Yulu; Kara, Majdi; Aslanger, Ayca Dilruba; Rosti, Rasim O.; Houlden, Henry; Salomons, Gajja S.; Gleeson, Joseph G.
Nature Communications; 8/13/2020, Vol. 11 Issue 1, p1-12, 12p
Academic Journal
Novarino, Gaia; El-Fishawy, Paul; Kayserili, Hulya; Meguid, Nagwa A; Scott, Eric M; Schroth, Jana; Silhavy, Jennifer L; Kara, Majdi; Khalil, Rehab O; Ben-Omran, Tawfeg; Ercan-Sencicek, A Gulhan; Hashish, Adel F; Sanders, Stephan J; Gupta, Abha R; Hashem, Hebatalla S; Matern, Dietrich; Gabriel, Stacey; Sweetman, Larry; Rahimi, Yasmeen; Harris, Robert A; State, Matthew W; Gleeson, Joseph G
Science. 338(6105)
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.
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