학술논문
'학술논문'
에서 검색결과 25건 | 목록
1~10
Academic Journal
Salayev, Kamran; Rocca, Clarissa; Kaiyrzhanov, Rauan; Guliyeva, Ulviyya; Guliyeva, Sughra; Mursalova, Aytan; Rahman, Fatima; Anwar, Najwa; Zafar, Faisal; Jan, Farida; Rana, Nuzhat; Maqbool, Shazia; Efthymiou, Stephanie; Houlden, Henry
In European Journal of Medical Genetics November 2022 65(11)
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
Periodical
Saida, Ken; Maroofian, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T.; Marafi, Dana; Zaki, Maha S.; O’Brien, Thomas J.; Karimiani, Ehsan Ghayoor; Kaiyrzhanov, Rauan; Takizawa, Marina; Ohori, Sachiko; Leong, Huey Yin; Akay, Gulsen; Galehdari, Hamid; Zamani, Mina; Romy, Ratna; Carroll, Christopher J.; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Malek, Hadis; Ahangari, Najmeh; Tomoum, Hoda; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Murphy, David; Dominik, Natalia; Elbendary, Hasnaa M.; Rafat, Karima; Yilmaz, Sanem; Kanmaz, Seda; Serin, Mine; Krishnakumar, Deepa; Gardham, Alice; Maw, Anna; Rao, Tekki Sreenivasa; Alsubhi, Sarah; Srour, Myriam; Buhas, Daniela; Jewett, Tamison; Goldberg, Rachel E.; Shamseldin, Hanan; Frengen, Eirik; Misceo, Doriana; Strømme, Petter; Magliocco Ceroni, José Ricardo; Kim, Chong Ae; Yesil, Gozde; Sengenc, Esma; Guler, Serhat; Hull, Mariam; Parnes, Mered; Aktas, Dilek; Anlar, Banu; Bayram, Yavuz; Pehlivan, Davut; Posey, Jennifer E.; Alavi, Shahryar; Madani Manshadi, Seyed Ali; Alzaidan, Hamad; Al-Owain, Mohammad; Alabdi, Lama; Abdulwahab, Ferdous; Sekiguchi, Futoshi; Hamanaka, Kohei; Fujita, Atsushi; Uchiyama, Yuri; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Elshafie, Reem M.; Salayev, Kamran; Guliyeva, Ulviyya; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Monaghan, Kristin G.; Langley, Katherine G.; Yang, Hui; Motavaf, Mahsa; Safari, Saeid; Alipour, Mozhgan; Ogata, Kazuhiro; Brown, André E.X.; Lupski, James R.; Houlden, Henry; Matsumoto, Naomichi
Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p90-102, 13p
Academic Journal
Kaiyrzhanov, Rauan; Rocca, Clarissa; Suri, Mohnish; Gulieva, Sughra; Zaki, Maha S.; Henig, Noa Z.; Siquier, Karine; Guliyeva, Ulviyya; Mounir, Samir M.; Marom, Daphna; Allahverdiyeva, Aynur; Megahed, Hisham; van Bokhoven, Hans; Cantagrel, Vincent; Rad, Aboulfazl; Pourkeramti, Alemeh; Dehghani, Boshra; Shao, Diane D.; Markus‐Bustani, Keren; Sofrin‐Drucker, Efrat
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
Marafi, Dana; Fatih, Jawid M; Kaiyrzhanov, Rauan; Ferla, Matteo P; Gijavanekar, Charul; Al-Maraghi, Aljazi; Liu, Ning; Sites, Emily; Alsaif, Hessa S; Al-Owain, Mohammad; Zakkariah, Mohamed; El-Anany, Ehab; Guliyeva, Ulviyya; Guliyeva, Sughra; Gaba, Colette; Haseeb, Ateeq; Alhashem, Amal M; Danish, Enam; Karageorgou, Vasiliki; Beetz, Christian
Academic Journal
Saida, Ken; Marootain, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T.; Marafi, Dana; Zaki, Maha S.; O'Brian, Thomas J.; Karimiani, Ehsan Ghayoor; Kaiyrzhanov, Rauan; Takizawa, Marina; Ohori, Sachiko; Leong, Huey Yin; Akay, Gulsen; Galehdari, Hamid; Zamani, Mina; Romy, Ratna; Carroll, Christopher J.; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Malek, Hadis; Ahangari, Najmeh; Tomoum, Hoda; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Murphy, David; Dominik, Natalia; Elbendary, Hasnaa M.; Rafat, Karima; Yilmaz, Sanem; Kanmaz, Seda; Serin, Mine; Krishnakumar, Deepa; Gardham, Alice; Maw, Anna; Rao, Tekki Sreenivasa; Alsubhi, Sarah; Srour, Myriam; Buhas, Daniela; Jewett, Tamison; Goldberg, Rachel E.; Shamseldin, Hanan; Frengen, Eirik; Misceo, Doriana; Stromme, Petter; Ceroni, Jose Ricardo Magliocco; Kim, Chong Ae; Yesil, Gozde; Sengenc, Esma; Guler, Serhat; Hull, Mariam; Parnes, Mered; Aktas, Dilek; Anlar, Banu; Bayram, Yavuz; Pehlivan, Davut; Posey, Jennifer E.; Alayi, Shahryar; Manshadi, Seyed Ali Madani; Alzaidan, Hamad; Al-Owain, Mohammad; Alabdi, Lama; Abdulwahab, Ferdous; Sekiguchi, Futoshi; Hamanaka, Kohei; Fujita, Atsushi; Uchiyama, Yuri; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Elshafie, Reem M.; Salayev, Kamran; Guliyeva, Ulviyya; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Monaghan, Kristin G.; Langley, Katherine G.; Yang, Hui; Motavaf, Mahsa; Safari, Saeid; Alipour, Mozhgan; Ogata, Kazuhiro; Brown, Andre E. X.; Lupski, James R.; Houlden, Henry; Matsumoto, Naomichi
Academic Journal
Christensen, Maria B.; Levy, Amanda M.; Mohammadi, Nazanin A.; Niceta, Marcello; Kaiyrzhanov, Rauan; Dentici, Maria Lisa; Al Alam, Chadi; Alesi, Viola; Benoit, Valerie; Bhatia, Kailash P.; Bierhals, Tatjana; Bosselmann, Christian M.; Buratti, Julien; Callewaert, Bert; Ceulemans, Berten; Charles, Perrine; De Wachter, Matthias; Dehghani, Mohammadreza; D'haenens, Erika; Doco-Fenzy, Martine; Gessner, Michaela; Gobert, Cyrielle; Guliyeva, Ulviyya; Haack, Tobias B.; Hammer, Trine B.; Heinrich, Tilman; Hempel, Maja; Herget, Theresia; Hoffmann, Ute; Horvath, Judit; Houlden, Henry; Keren, Boris; Kresge, Christina; Kumps, Candy; Lederer, Damien; Lermine, Alban; Magrinelli, Francesca; Maroofian, Reza; Mehrjardi, Mohammad Yahya Vahidi; Moudi, Mahdiyeh; Mueller, Amelie J.; Oostra, Anna J.; Pletcher, Beth A.; Ros-Pardo, David; Samarasekera, Shanika; Tartaglia, Marco; Van Schil, Kristof; Vogt, Julie; Wassmer, Evangeline; Winkelmann, Juliane; Zaki, Maha S.; Zech, Michael; Lerche, Holger; Radio, Francesca Clementina; Gomez-Puertas, Paulino; Moller, Rikke S.; Tuemer, Zeynep
Academic Journal
Kaiyrzhanov, Rauan; Guliyeva, Ulviyya; Gulieva, Sughra; Salayev, Kamran; Mursalova, Aytan; Allahyarova, Parvin; Ferla, Matteo P.; Houlden, Henry
Academic Journal
Marafi, Dana; Fatih, Jawid M.; Kaiyrzhanov, Rauan; Ferla, Matteo P.; Gijavanekar, Charul; Al-Maraghi, Aljazi; Liu, Ning; Sites, Emily; Alsaif, Hessa S.; Al-Owain, Mohammad; Zakkariah, Mohamed; El-Anany, Ehab; Guliyeva, Ulviyya; Guliyeva, Sughra; Gaba, Colette; Haseeb, Ateeq; Alhashem, Amal M.; Danish, Enam; Karageorgou, Vasiliki; Beetz, Christian; Subhi, Alaa A.; Mullegama, Sureni, V; Torti, Erin; Sebastin, Monisha; Breilyn, Margo Sheck; Duberstein, Susan; Abdel-Hamid, Mohamed S.; Mitani, Tadahiro; Du, Haowei; Rosenfeld, Jill A.; Jhangiani, Shalini N.; Akdemir, Zeynep Coban; Gibbs, Richard A.; Taylor, Jenny C.; Fakhro, Khalid A.; Hunter, Jill, V; Pehlivan, Davut; Zaki, Maha S.; Gleeson, Joseph G.; Maroofian, Reza; Houlden, Henry; Posey, Jennifer E.; Sutton, V. Reid; Alkuraya, Fowzan S.; Elsea, Sarah H.; Lupski, James R.
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[AR] Guliyeva, Ulviyya
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