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

Mutations in VPS18 lead to a neutrophil maturation defect associated with disturbed vesicle homeostasis.

VPS18 基因突变会导致中性粒细胞成熟缺陷,并伴有囊泡稳态紊乱。

Gao Jincheng, Bader Almke, Linder Monika I, Cheng Jingyuan, Richter Mathis, da Costa Raul, Zehrer Annette, Mitt Karl, Popper Bastian, Meissner Felix, Wei Xiang, de Vega Gómez Enrique, Tatematsu Megumi, Rohlfs Meino, Frenz-Wiessner Stephanie, Kiziltug Mehmet, Somekh Ido, Yacobovich Joanne, Steinberg-Shemer Orna, Somech Raz, Soehnlein Oliver, Schmid Bettina, Klein Christoph, Walzog Barbara, Maier-Begandt Daniela

Investigating concomitant RAG-2 and LRBA mutations in SCID and autoimmunity

研究重症联合免疫缺陷病和自身免疫性疾病中 RAG-2 和 LRBA 基因的伴随突变

Spivak, Ilia; Frizinsky, Shirly; Mandola, Amarilla; Lev, Atar; Simon, Amos J; Barel, Ortal; Vishnevskia-Dai, Vicktoria; Somech, Raz; Somekh, Ido

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders

诊断患有各种遗传性血小板疾病的患者的临床和实验室特征

Gök, Veysel; Ozcan, Alper; Mutlu, Fatma Türkan; Yılmaz, Ebru; Kocak Göl, Deniz; Ozay, Mustafa; Demir, Baver; Taskiran, Hüseyin; Bas, Hasan; Mutlu, Mehmet Burak; Dogan, Muhammet Ensar; Bisgin, Atil; Somekh, Ido; Rohlfs, Meino; Dundar, Munis; Ozkul, Yusuf; Klein, Christoph; Karakukcu, Musa; Unal, Ekrem

A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy

FNIP1基因的一种新突变与综合征性免疫缺陷和心肌病相关。

Spivak, Ilia; Lev, Atar; Simon, Amos J; Barel, Ortal; Somekh, Ido; Somech, Raz

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

人类 CARMIL2 缺陷所导致的免疫学和临床表型比 CD28 缺陷更为广泛。

Lévy, Romain; Gothe, Florian; Momenilandi, Mana; Magg, Thomas; Materna, Marie; Peters, Philipp; Raedler, Johannes; Philippot, Quentin; Rack-Hoch, Anita Lena; Langlais, David; Bourgey, Mathieu; Lanz, Anna-Lisa; Ogishi, Masato; Rosain, Jérémie; Martin, Emmanuel; Latour, Sylvain; Vladikine, Natasha; Distefano, Marco; Khan, Taushif; Rapaport, Franck; Schulz, Marian S; Holzer, Ursula; Fasth, Anders; Sogkas, Georgios; Speckmann, Carsten; Troilo, Arianna; Bigley, Venetia; Roppelt, Anna; Dinur-Schejter, Yael; Toker, Ori; Bronken Martinsen, Karen Helene; Sherkat, Roya; Somekh, Ido; Somech, Raz; Shouval, Dror S; Kühl, Jörn-Sven; Ip, Winnie; McDermott, Elizabeth M; Cliffe, Lucy; Ozen, Ahmet; Baris, Safa; Rangarajan, Hemalatha G; Jouanguy, Emmanuelle; Puel, Anne; Bustamante, Jacinta; Alyanakian, Marie-Alexandra; Fusaro, Mathieu; Wang, Yi; Kong, Xiao-Fei; Cobat, Aurélie; Boutboul, David; Castelle, Martin; Aguilar, Claire; Hermine, Olivier; Cheminant, Morgane; Suarez, Felipe; Yildiran, Alisan; Bousfiha, Aziz; Al-Mousa, Hamoud; Alsohime, Fahad; Cagdas, Deniz; Abraham, Roshini S; Knutsen, Alan P; Fevang, Borre; Bhattad, Sagar; Kiykim, Ayca; Erman, Baran; Arikoglu, Tugba; Unal, Ekrem; Kumar, Ashish; Geier, Christoph B; Baumann, Ulrich; Neven, Bénédicte; Rohlfs, Meino; Walz, Christoph; Abel, Laurent; Malissen, Bernard; Marr, Nico; Klein, Christoph; Casanova, Jean-Laurent; Hauck, Fabian; Béziat, Vivien

Reopening Schools and the Dynamics of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infections in Israel: A Nationwide Study

以色列学校重新开放与严重急性呼吸综合征冠状病毒2 (SARS-CoV-2) 感染动态:一项全国性研究

Somekh, Ido; Shohat, Tamy; Boker, Lital Keinan; Simões, Eric A F; Somekh, Eli

French Pediatric Societies Call for School to Stay Open amid the Coronavirus Disease 2019 Pandemic

法国儿科学会呼吁在2019冠状病毒病疫情期间学校保持开放

Guen, Christèle Gras-Le; Hentgen, Véronique; Dubos, François; Kochert, Fabienne; Balençon, Martine; Levy, Corinne; Somekh, Ido; Somekh, Eli; Ferrara, Pietro; Pettoello-Mantovani, Massimo; Cohen, Robert

Author Correction: Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

作者更正:人类FCHO1缺陷揭示了网格蛋白介导的内吞作用在T细胞发育和功能中的作用

Łyszkiewicz, Marcin; Ziętara, Natalia; Frey, Laura; Pannicke, Ulrich; Stern, Marcel; Liu, Yanshan; Fan, Yanxin; Puchałka, Jacek; Hollizeck, Sebastian; Somekh, Ido; Rohlfs, Meino; Yilmaz, Tuğba; Ünal, Ekrem; Karakukcu, Musa; Patiroğlu, Türkan; Kellerer, Christina; Karasu, Ebru; Sykora, Karl-Walter; Lev, Atar; Simon, Amos; Somech, Raz; Roesler, Joachim; Hoenig, Manfred; Keppler, Oliver T; Schwarz, Klaus; Klein, Christoph

Changes in Routine Pediatric Practice in Light of Coronavirus 2019 (COVID-19)

2019冠状病毒病(COVID-19)疫情下儿科常规诊疗实践的变化

Somekh, Ido; Somech, Raz; Pettoello-Mantovani, Massimo; Somekh, Eli

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

CD137 缺陷会导致免疫失调,并易导致淋巴瘤发生。

Somekh, Ido; Thian, Marini; Medgyesi, David; Gülez, Nesrin; Magg, Thomas; Gallón Duque, Alejandro; Stauber, Tali; Lev, Atar; Genel, Ferah; Unal, Ekrem; Simon, Amos J; Lee, Yu Nee; Kalinichenko, Artem; Dmytrus, Jasmin; Kraakman, Michael J; Schiby, Ginette; Rohlfs, Meino; Jacobson, Jeffrey M; Özer, Erdener; Akcal, Ömer; Conca, Raffaele; Patiroglu, Türkan; Karakukcu, Musa; Ozcan, Alper; Shahin, Tala; Appella, Eliana; Tatematsu, Megumi; Martinez-Jaramillo, Catalina; Chinn, Ivan K; Orange, Jordan S; Trujillo-Vargas, Claudia Milena; Franco, José Luis; Hauck, Fabian; Somech, Raz; Klein, Christoph; Boztug, Kaan