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Infectious complications in pediatric acute lymphoblastic leukemia treatment: A comparison of ALL-IC BFM 2009 vs. modified St. Jude total XV in a single-center retrospective cohort study 儿童急性淋巴细胞白血病治疗中的感染并发症:ALL-IC BFM 2009与改良St. Jude total XV在单中心回顾性队列研究中的比较 Unal, Dilara; Gumruk, Fatma; Aytac, Selin; Kuskonmaz, Baris; Aksu, Muhammed Dogukan; Okur, Fatma Visal; Aksu, Tekin; Ceyhan, Mehmet; Kara, Ates; Cengiz, Ali Bulent; Ozsurekci, Yasemin; Unal, Sule 分享 收藏
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Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients Marra, Roberta; Nostroso, Antonella; Rosato, Barbara Eleni; Esposito, Federica Maria; D'Onofrio, Vanessa; Iscaro, Anthony; Gambale, Antonella; Bruschi, Barbara; Coccia, Paola; Poloni, Antonella; Unal, Sule; Romano, Alberto; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta 分享 收藏
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Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations Andolfo, Immacolata; Monaco, Vittoria; Cozzolino, Flora; Rosato, Barbara Eleni; Marra, Roberta; Cerbone, Vincenza; Pinto, Valeria Maria; Forni, Gian Luca; Unal, Sule; Iolascon, Achille; Monti, Maria; Russo, Roberta 分享 收藏
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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Ly, Thanh Thao Nguyen; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S.; Isfort, Robert J.; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C.; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Isikay, Sedat; Gleeson, Joseph G.; Lupski, James R.; Casanova, Jean-Laurent; Pagliarini, David J.; Akarsu, Nurten A.; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S.; Ho, Lena; Bard, Frederic A.; Reversade, Bruno 分享 收藏
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy (vol 108, pg 1301, 2021) Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Thanh Thao Nguyen Ly; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S.; Isfort, Robert J.; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C.; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Ikay, Sedat Is Comma; Gleeson, Joseph G.; Lupski, James R.; Casanova, Jean-Laurent; Pagliarini, David J.; Akarsu, Nurten A.; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S.; Ho, Lena; Bard, Frederic A.; Reversade, Bruno 分享 收藏
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Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis Preisler, Barbara; Pezeshkpoor, Behnaz; Banchev, Atanas; Fischer, Ronald; Zieger, Barbara; Scholz, Ute; Ruehl, Heiko; Kemkes-Matthes, Bettina; Schmitt, Ursula; Redlich, Antje; Unal, Sule; Laws, Hans-Jurgen; Olivieri, Martin; Oldenburg, Johannes; Pavlova, Anna 分享 收藏
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Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein (vol 10, 621, 2019) 两例先天性红细胞生成障碍性贫血I型的特征揭示了未表征的C15orf41蛋白 (第10卷,621,2019) Russo, Roberta; Marra, Roberta; Andolfo, Immacolata; De Rosa, Gianluca; Rosato, Barbara Eleni; Manna, Francesco; Gambale, Antonella; Raia, Maddalena; Unal, Sule; Barella, Susanna; Iolascon, Achille 分享 收藏
Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein Russo, Roberta; Marra, Roberta; Andolfo, Immacolata; De Rosa, Gianluca; Rosato, Barbara Eleni; Manna, Francesco; Gambale, Antonella; Raia, Maddalena; Unal, Sule; Barella, Susanna; Iolascon, Achille 分享 收藏
A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2 Ozen, Seza; Batu, Ezgi Deniz; Taskiran, Ekim Z.; Ozkara, Hatice Asuman; Unal, Sule; Guleray, Naz; Erden, Abdulsamet; Karadag, Omer; Gumruk, Fatma; Cetin, Mualla; Sonmez, Hafize Emine; Bilginer, Yelda; Ayvaz, Deniz Cagdas; Tezcan, Ilhan 分享 收藏
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1 抑癌基因BRCA1纯合无义突变的生存机制 Seo, Aaron; Steinberg-Shemer, Orna; Unal, Sule; Casadei, Silvia; Walsh, Tom; Gumruk, Fatma; Shalev, Stavit; Shimamura, Akiko; Akarsu, Nurten Ayse; Tamary, Hannah; King, Mary-Claire 分享 收藏