학술논문
'학술논문'
에서 검색결과 412건 | 목록
20~30
Academic Journal
Dong, Weilai; Kaymakcalan, Hande; Jin, Sheng Chih; Diab, Nicholas S.; Tanıdır, Cansaran; Yalcin, Ali Seyfi Yalim; Ercan‐Sencicek, A. Gulhan; Mane, Shrikant; Gunel, Murat; Lifton, Richard P.; Bilguvar, Kaya; Brueckner, Martina
Academic Journal
Jin, Sheng Chih; Homsy, Jason; Zaidi, Samir; Lu, Qiongshi; Morton, Sarah; DePalma, Steven R; Zeng, Xue; Qi, Hongjian; Chang, Weni; Sierant, Michael C; Hung, Wei-Chien; Haider, Shozeb; Zhang, Junhui; Knight, James; Bjornson, Robert D; Castaldi, Christopher; Tikhonoa, Irina R; Bilguvar, Kaya; Mane, Shrikant M; Sanders, Stephan J; Mital, Seema; Russell, Mark W; Gaynor, J William; Deanfield, John; Giardini, Alessandro; Porter, George A; Srivastava, Deepak; Lo, Cecelia W; Shen, Yufeng; Watkins, W Scott; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Newburger, Jane W; Roberts, Amy E; Kim, Richard; Zhao, Hongyu; Kaltman, Jonathan R; Goldmuntz, Elizabeth; Chung, Wendy K; Seidman, Jonathan G; Gelb, Bruce D; Seidman, Christine E; Lifton, Richard P; Brueckner, Martina
Nature Genetics. 49(11)
Academic Journal
Karakaya, Cengiz; Çil, Aylin Pelin; Bilguvar, Kaya; Çakir, Tunahan; Karalok, Mete Hakan; Karabacak, Recep Onur; Caglayan, Ahmet Okay
Academic Journal
Choi, Jungmin; Manzano, Aranzazu; Dong, Weilai; Bellone, Stefania; Bonazzoli, Elena; Zammataro, Luca; Yao, Xiaotong; Deshpande, Aditya; Zaidi, Samir; Guglielmi, Adele; Gnutti, Barbara; Nagarkatti, Nupur; Tymon-Rosario, Joan R.; Harold, Justin; Mauricio, Dennis; Zeybek, Burak; Menderes, Gulden; Altwerger, Gary; Jeong, Kyungjo; Zhaoi, Siming; Buzaj, Natalia; Huij, Pei; Ravaggi, Antonella; Bignotti, Eliana; Romani, Chiara; Todeschini, Paola; Zanotti, Laura; Odicino, Franco; Pecorelli, Sergio; Ardighieril, Laura; Bilguvar, Kaya; Quick, Charles M.; Silasin, Dan-Arin; Huang, Gloria S.; Andikyan, Vaagn; Clark, Mitchell; Ratner, Elena; Azodi, Masoud; Imielinski, Marcin; Schwartz, Peter E.; Alexandrov, Ludmil B.; Lifton, Richard P.; Schlessinger, Joseph; Santin, Alessandro D.
Proceedings of the National Academy of Sciences of the United States. April 13, 2021, Vol. 118 Issue 15, p1A66, 9 p.
FBXO7–R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family
Academic Journal
Gündüz, Ayşegül; Eken, Aslı Gündoğdu; Bilgiç, Başar; Hanagasi, Hasmet A.; Bilgüvar, Kaya; Günel, Murat; Başak, A. Nazlı; Ertan, Sibel
In Parkinsonism and Related Disorders November 2014 20(11):1253-1256
Academic Journal
Mishra-Gorur, Ketu; Barak, Tanyeri; Kaulen, Leon D.; Henegariu, Octavian; Jin, Sheng Chih; Aguilera, Stephanie Marie; Yalbir, Ezgi; Goles, Gizem; Nishimura, Sayoko; Miyagishima, Danielle; Djenoune, Lydia; Altinok, Selin; Rai, Devendra K.; Viviano, Stephen; Prendergast, Andrew; Zerillo, Cynthia; Ozcan, Kent; Baran, Burcin; Sencar, Leman; Goc, Nukte; Yarman, Yanki; Ercan-Sencicek, A. Gulhan; Bilguvar, Kaya; Lifton, Richard P.; Moliterno, Jennifer; Louvi, Angeliki; Yuan, Shiaulou; Deniz, Engin; Brueckner, Martina; Gunel, Murat
Academic Journal
Lee, Danyel; Le Pen, Jeremie; Yatim, Ahmad; Dong, Beihua; Aquino, Yann; Ogishi, Masato; Pescarmona, Remi; Talouarn, Estelle; Rinchai, Darawan; Zhang, Peng; Perret, Magali; Liu, Zhiyong; Jordan, Iolanda; Bozdemir, Sefika Elmas; Bayhan, Gulsum Iclal; Beaufils, Camille; Bizien, Lucy; Bisiaux, Aurelie; Lei, Weite; Hasan, Milena; Chen, Jie; Gaughan, Christina; Asthana, Abhishek; Libri, Valentina; Luna, Joseph M.; Jaffre, Fabrice; Hoffmann, H. Heinrich; Michailidis, Eleftherios; Moreews, Marion; Seeleuthner, Yoann; Bilguvar, Kaya; Mane, Shrikant; Flores, Carlos; Zhang, Yu; Arias, Andres A.; Bailey, Rasheed; Schluter, Agatha; Milisavljevic, Baptiste; Bigio, Benedetta; Le Voyer, Tom; Materna, Marie; Gervais, Adrian; Moncada-Velez, Marcela; Pala, Francesca; Lazarov, Tomi; Levy, Romain; Neehus, Anna-Lena; Rosain, Jeremie; Peel, Jessica; Chan, Yi-Hao; Morin, Marie-Paule; Pino-Ramirez, Rosa Maria; Belkaya, Serkan; Lorenzo, Lazaro; Anton, Jordi; Delafontaine, Selket; Toubiana, Julie; Bajolle, Fanny; Fumado, Victoria; DeDiego, Marta L.; Fidouh, Nadhira; Rozenberg, Flore; Perez-Tur, Jordi; Chen, Shuibing; Evans, Todd; Geissmann, Frederic; Lebon, Pierre; Weiss, Susan R.; Bonnet, Damien; Duval, Xavier; Pan-Hammarstrom, Qiang; Planas, Anna M.; Meyts, Isabelle; Haerynck, Filomeen; Pujol, Aurora; Sancho-Shimizu, Vanessa; Dalgard, Clifford L.; Bustamante, Jacinta; Puel, Anne; Boisson-Dupuis, Stephanie; Boisson, Bertrand; Maniatis, Tom; Zhang, Qian; Bastard, Paul; Notarangelo, Luigi; Beziat, Vivien; de Diego, Rebeca Perez; Rodriguez-Gallego, Carlos; Su, Helen C.; Lifton, Richard P.; Jouanguy, Emmanuelle; Cobat, Aurelie; Alsina, Laia; Keles, Sevgi; Haddad, Elie; Abel, Laurent; Belot, Alexandre; Quintana-Murci, Lluis; Rice, Charles M.; Silverman, Robert H.; Zhang, Shen-Ying; Casanova, Jean-Laurent; CoV Contact Cohort; Covid Human Genetic Effort
Academic Journal
Lardelli, Rea M; Schaffer, Ashleigh E; Eggens, Veerle RC; Zaki, Maha S; Grainger, Stephanie; Sathe, Shashank; Van Nostrand, Eric L; Schlachetzki, Zinayida; Rosti, Basak; Akizu, Naiara; Scott, Eric; Silhavy, Jennifer L; Heckman, Laura Dean; Rosti, Rasim Ozgur; Dikoglu, Esra; Gregor, Anne; Guemez-Gamboa, Alicia; Musaev, Damir; Mande, Rohit; Widjaja, Ari; Shaw, Tim L; Markmiller, Sebastian; Marin-Valencia, Isaac; Davies, Justin H; de Meirleir, Linda; Kayserili, Hulya; Altunoglu, Umut; Freckmann, Mary Louise; Warwick, Linda; Chitayat, David; Blaser, Susan; Çağlayan, Ahmet Okay; Bilguvar, Kaya; Per, Huseyin; Fagerberg, Christina; Christesen, Henrik T; Kibaek, Maria; Aldinger, Kimberly A; Manchester, David; Matsumoto, Naomichi; Muramatsu, Kazuhiro; Saitsu, Hirotomo; Shiina, Masaaki; Ogata, Kazuhiro; Foulds, Nicola; Dobyns, William B; Chi, Neil C; Traver, David; Spaccini, Luigina; Bova, Stefania Maria; Gabriel, Stacey B; Gunel, Murat; Valente, Enza Maria; Nassogne, Marie-Cecile; Bennett, Eric J; Yeo, Gene W; Baas, Frank; Lykke-Andersen, Jens; Gleeson, Joseph G
Nature Genetics. 49(3)
Academic Journal
Li, Hongda; Bielas, Stephanie L; Zaki, Maha S; Ismail, Samira; Farfara, Dorit; Um, Kyongmi; Rosti, Rasim O; Scott, Eric C; Tu, Shu; Chi, Neil C; Gabriel, Stacey; Erson-Omay, Emine Z; Ercan-Sencicek, A Gulhan; Yasuno, Katsuhito; Çağlayan, Ahmet Okay; Kaymakçalan, Hande; Ekici, Barış; Bilguvar, Kaya; Gunel, Murat; Gleeson, Joseph G
American Journal of Human Genetics. 99(2)
Periodical
Tuysuz, Beyhan; Uludag Alkaya, Dilek; Geyik, Filiz; Alaylıoğlu, Merve; Kasap, Busra; Kurugoğlu, Sebuh; Akman, Yunus Emre; Vural, Mehmet; Bilguvar, Kaya
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 8 p819-826, 8p
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[AR] Bilguvar, Kaya
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