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收藏分享 收藏 分享 收藏 DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans (vol 44, 175, 2024)
Azizoglu, Zehra Busra; Babayeva, Royala; Haskologlu, Zehra Sule; Acar, Mustafa Burak; Ayaz-Guner, Serife; Okus, Fatma Zehra; Alsavaf, Mohammad Bilal; Can, Salim; Basaran, Kemal Erdem; Canatan, Mehmed Fatih; Ozcan, Alper; Erkmen, Hasret; Leblebici, Can Berk; Yilmaz, Ebru; Karakukcu, Musa; Kose, Mehmet; Canoz, Ozlem; Ozen, Ahmet; Karakoc-Aydiner, Elif; Ceylaner, Serdar; Gumus, Gulsum; Per, Huseyin; Gumus, Hakan; Canatan, Halit; Ozcan, Servet; Dogu, Figen; Ikinciogullari, Aydan; Unal, Ekrem; Baris, Safa; Eken, Ahmet 分享 收藏 DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in HumansAzizoglu, Zehra Busra; Babayeva, Royala; Haskologlu, Zehra Sule; Acar, Mustafa Burak; Ayaz-Guner, Serife; Okus, Fatma Zehra; Alsavaf, Mohammad Bilal; Can, Salim; Basaran, Kemal Erdem; Canatan, Mehmed Fatih; Ozcan, Alper; Erkmen, Hasret; Leblebici, Can Berk; Yilmaz, Ebru; Karakukcu, Musa; Kose, Mehmet; Canoz, Ozlem; Ozen, Ahmet; Karakoc-Aydiner, Elif; Ceylaner, Serdar; Gumus, Guelsuem; Per, Huseyin; Gumus, Hakan; Canatan, Halit; Ozcan, Servet; Dogu, Figen; Ikinciogullari, Aydan; Unal, Ekrem; Baris, Safa; Eken, Ahmet 分享 收藏 Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter StudyUzan, Gamze Sarikaya; Vural, Atay; Yuksel, Deniz; Aksoy, Erhan; Oztoprak, Ulkuhan; Canpolat, Mehmet; Ozturk, Selcan; Yildirim, Celebi; Gulec, Ayten; Per, Huseyin; Gumus, Hakan; Okuyaz, Cetin; Direk, Meltem Cobanoullari; Kosmur, Mustafa; Unalp, Aycan; Yilmaz, Unsal; Bektas, Omer; Teber, Serap; Aliyeva, Nargiz; Dundar, Nihal Olgac; Gencpinar, Pinar; Gurkas, Esra; Yilmaz, Sanem Keskin; Kanmaz, Seda; Tekgtil, Hasan; Aksoy, Ayse; Tuncer, Gokcen Oz; Arslan, Elif Acar; Tosun, Ayse; Ayanoglu, Muge; Kizilirmak, Ali Burak; Yousefi, Mohammadreza; Bodur, Muhittin; Unay, Bulent; Kurul, Semra Hiz; Yis, Uluc 分享 收藏 分享 收藏 Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes人类COQ4缺乏症: 描述临床，代谢和神经影像学表型Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Muller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco, Gessica; Steinfeld, Robert; Wagner, Matias; Caglayan, Ahmet Okay; Gumus, Hakan; Burmeister, Margit; Mayatepek, Ertan; Martinelli, Diego; Tamhankar, Parag Mohan; Tamhankar, Vasundhara; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Bonnen, Penelope E.; Froukh, Tawfiq; Groeschel, Samuel; Krageloh-Mann, Ingeborg; Haack, Tobias B.; Distelmaier, Felix 分享 收藏 Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC studyBozkaya-Yilmaz, Sema; Karadag-Oncel, Eda; Olgac-Dundar, Nihal; Gencpinar, Pinar; Sarioglu, Berrak; Arican, Pinar; Ersen, Atilla; Yilmaz-Ciftdogan, Dilek; Yuksel, Merve Feyza; Bektas, Omer; Teber, Serap; Kilic, Betul; Calik, Mustafa; Karaca, Meryem; Canpolat, Mehmet; Kumandas, Sefer; Per, Huseyin; Gumus, Hakan; Ozturk, Selcan; Okuyaz, Cetin; Komur, Mustafa; Ipek, Rojan; Ozbudak, Pinar; Arhan, Ebru; Ince, Hulya; Gurbuz, Gurkan; Mert, Gulen Gul; Ozcan, Neslihan; Turker, Akgun Olmez; Gazeteci-Tekin, Hande; Kirik, Serkan; Gunbey, Ceren; Carman, Kursat Bora; Yarar, Coskun; Cavusoglu, Dilek 分享 收藏 Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia SyndromeGuemez-Gamboa, Alicia; Caglayan, Ahmet Okay; Stanley, Valentina; Gregor, Anne; Zaki, Maha S.; Saleem, Sahar N.; Musaev, Damir; McEvoy-Venneri, Jennifer; Belandres, Denice; Akizu, Naiara; Silhavy, Jennifer L.; Schroth, Jana; Rosti, Rasim Ozgur; Copeland, Brett; Lewis, Steven M.; Fang, Rebecca; Issa, Mahmoud Y.; Per, Huseyin; Gumus, Hakan; Bayram, Ayse Kacar; Kumandas, Sefer; Akgumus, Gozde Tugce; Erson-Omay, Emine Z.; Yasuno, Katsuhito; Bilguvar, Kaya; Heimer, Gali; Pillar, Nir; Shomron, Noam; Weissglas-Volkov, Daphna; Porat, Yuval; Einhorn, Yaron; Gabriel, Stacey; Ben-Zeev, Bruria; Gunel, Murat; Gleeson, Joseph G. 分享 收藏 分享 收藏 Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors (vol 84, pg 1226, 2014)Mishra-Gorur, Ketu; Caglayan, Ahmet Okay; Schaffer, Ashleigh E.; Chabu, Chiswili; Henegariu, Octavian; Vonhoff, Fernando; Akgumus, Gozde Tugce; Nishimura, Sayoko; Han, Wenqi; Tu, Shu; Baran, Burcin; Gumus, Hakan; Dilber, Cengiz; Zaki, Maha S.; Hossni, Heba A. A.; Riviere, Jean-Baptiste; Kayserili, Hulya; Spencer, Emily G.; Rosti, Rasim O.; Schroth, Jana; Per, Huseyin; Caglar, Caner; Caglar, Cagri; Dolen, Duygu; Baranoski, Jacob F.; Kumandas, Sefer; Minja, Frank J.; Erson-Omay, E. Zeynep; Mane, Shrikant M.; Lifton, Richard P.; Xu, Tian; Keshishian, Haig; Dobyns, William B.; Chi, Neil C.; Sestan, Nenad; Louvi, Angeliki; Bilguvar, Kaya; Yasuno, Katsuhito; Gleeson, Joseph G.; Gunel, Murat 分享 收藏 Childhood Stroke: Results of 130 Children From a Reference Center in Central Anatolia, TurkeyPer, Huseyin; Unal, Ekrem; Poyrazoglu, Hatice Gamze; Ozdemir, Mehmet Akif; Donmez, Halil; Gumus, Hakan; Uzum, Kazim; Canpolat, Mehmet; Akyildiz, Basak Nur; Coskun, Abdulhakim; Kurtsoy, Ali; Kumandas, Sefer 分享 收藏 分享 收藏 Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiencyGumus, Hakan; Ghesquiere, Stijn; Per, Hueseyin; Kondolot, Meda; Ichida, Kimiyoshi; Poyrazoglu, Gamze; Kumandas, Sefer; Engelen, John; Dundar, Munis; Caglayan, Ahmet Okay 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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