日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Distinct mutational signature and clonal evolution in constitutional mismatch repair deficiency-associated high-grade gliomas

先天性错配修复缺陷相关高级别胶质瘤的独特突变特征和克隆演化

Li, Chang; Erson-Omay, E Zeynep; Koksal, Yavuz; Unal, Ekrem; Kara, Buket; Bilguvar, Kaya; Paksoy, Yahya; Durmus, Nimetullah Alper; Kurtsoy, Ali; Per, Huseyin; Østergaard, John Rosendahl; Günel, Murat; Çağlayan, Ahmet Okay

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

ARHGAP19基因的双等位基因变异会导致进行性遗传性运动为主的神经病。

Dominik, Natalia; Efthymiou, Stephanie; Record, Christopher J; Miao, Xinyu; Lin, Renee Q; Parmar, Jevin M; Scardamaglia, Annarita; Maroofian, Reza; Lowe, Simon A; Aughey, Gabriel N; Wilson, Abigail D; Curro, Riccardo; Schnekenberg, Ricardo P; Alavi, Shahryar; Leclaire, Leif; He, Yi; Zhelcheska, Kristina; Bellaïche, Yohanns; Gaugué, Isabelle; Skorupinska, Mariola; Van de Vondel, Liedewei; Da'as, Sahar I; Turchetti, Valentina; Güngör, Serdal; Monahan, Gavin V; Ghayoor Karimiani, Ehsan; Jamshidi, Yalda; Lamont, Phillipa J; Armirola-Ricaurte, Camila; Topaloglu, Haluk; Jordanova, Albena; Zaman, Mashaya; Banu, Selina H; Marques, Wilson; Tomaselli, Pedro J; Aynekin, Busra; Cansu, Ali; Per, Huseyin; Güleç, Ayten; Alvi, Javeria Raza; Sultan, Tipu; Khan, Arif; Zifarelli, Giovanni; Ibrahim, Shahnaz; Mancini, Grazia M S; Motazacker, M M; Brusse, Esther; Lupo, Vincenzo; Sevilla, Teresa; Başak, A Nazli; Tekgul, Seyma; Palvadeau, Robin J; Baets, Jonathan; Parman, Yesim; Çakar, Arman; Horvath, Rita; Haack, Tobias B; Stahl, Jan-Hendrik; Grundmann-Hauser, Kathrin; Park, Joohyun; Zuchner, Stephan; Laing, Nigel G; Wilson, Lindsay A; Rossor, Alexander M; Polke, James; Figueiredo, Fernanda Barbosa; Pessoa, André; Kok, Fernando; Coimbra-Neto, Antônio Rodrigues; Franca, Marcondes C Jr; Ravenscroft, Gianina; Hamed, Sherifa A; Chung, Wendy K; Pittman, Alan M; Osborn, Daniel P; Hanna, Michael; Cortese, Andrea; Reilly, Mary M; Jepson, James Ec; Lamarche-Vane, Nathalie; Houlden, Henry

Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the AHI1 Gene

性发育障碍和辅酶Q10缺乏症的混合表型,以及其兄弟姐妹携带AHI1基因纯合变异

Atasay, Rumeysa; Yilmaz, Leyla Nur; Gulec, Ayten; Canpolat, Mehmet; Per, Huseyin; Kardas, Fatih; Ozsait Selcuk, Bilge; Karaman, Birsen; Kiraz, Aslihan; Dundar, Munis

Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants

探索 NAGLU Arg234Gly 和 Asp312Asn 变体的分子和表型特征

Kaymakcalan Celebiler, Hande; Barak, Tanyeri; Rai, Devendra K; Kaya, Ilyas; Erbilgin, Seda; Cikili Uytun, Merve; Oztop, Didem; Gumus, Hakan; Per, Huseyin; Ceylaner, Serdar; Bozkurt, Icten; Kontaridis, Maria I; Bilguvar, Kaya; Akhun, Nilay; Kilincaslan, Ayse; Caglayan, Ahmet Okay; Erson-Omay, E Zeynep; Gunel, Murat; Ercan-Sencicek, A Gulhan

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33

在患有 Joubert 综合征 33 型的三兄妹中发现新的 PIBF1 致病变异

Aynekin, Busra; Samur, Bahadır M; Ozgul Gumus, Ummu Gulsum; Bilguvar, Kaya; Gulec, Ayten; Efthymiou, Stephanie; Gumus, Hakan; Caglayan, Ahmet Okay; Per, Huseyin

DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans

DIAPH1 缺陷与人类 T 细胞、NK 细胞和 ILC 细胞的主要缺陷相关

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; Özen, Ahmet; Karakoc-Aydiner, Elif; Ceylaner, Serdar; Gümüş, Gülsüm; Per, Huseyin; Gumus, Hakan; Canatan, Halit; Ozcan, Servet; Dogu, Figen; Ikinciogullari, Aydan; Unal, Ekrem; Baris, Safa; Eken, Ahmet

Correction to: DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans

更正:DIAPH1 缺陷与人类主要 T 细胞、NK 细胞和 ILC 细胞缺陷相关

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; Özen, Ahmet; Karakoc-Aydiner, Elif; Ceylaner, Serdar; Gümüş, Gülsüm; Per, Huseyin; Gumus, Hakan; Canatan, Halit; Ozcan, Servet; Dogu, Figen; Ikinciogullari, Aydan; Unal, Ekrem; Baris, Safa; Eken, Ahmet

Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients

对产后队列中染色体异常的评估:一项纳入14242名患者的单中心研究

Akalin, Hilal; Sahin, Izem Olcay; Paskal, Seyma Aktas; Tan, Busra; Yalcinkaya, Ezgi; Demir, Mikail; Yakubi, Mustafa; Caliskan, Busra Ozguc; Ekinci, Ozlem Gokce; Ercan, Mehmet; Kucuk, Tugce Yasar; Gokgoz, Gizem; Kiraz, Aslihan; Per, Huseyin; Ozgun, Mahmut Tuncay; Baydilli, Numan; Ozkul, Yusuf; Dundar, Munis

Neurological Complications in Children With Cancer: Experience From a Single Center in Türkiye

土耳其某中心癌症患儿的神经系统并发症:经验

Kara, Leyla; Unal, Ekrem; Per, Huseyin; Kumandas, Sefer; Canpolat, Mehmet; Elmali, Ferhan; Ozcan, Alper; Yilmaz, Ebru; Karakukcu, Musa; Ozdemir, Mehmet Akif; Patiroglu, Turkan; Gumus, Hakan

Evaluating the brainstem in children with breath-holding spells.

对患有屏气症的儿童进行脑干评估

Ozcora Gul Demet Kaya, Kumandas Sefer, Sagiroglu Ayse, Acer Niyazi, Doganay Selim, Yigit Huseyin, Canpolat Mehmet, Per Huseyin, Gumus Hakan