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

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

FZR1基因新发功能缺失变异会导致发育性和癫痫性脑病。

Manivannan, Sathiya N; Roovers, Jolien; Smal, Noor; Myers, Candace T; Turkdogan, Dilsad; Roelens, Filip; Kanca, Oguz; Chung, Hyung-Lok; Scholz, Tasja; Hermann, Katharina; Bierhals, Tatjana; Caglayan, Hande S; Stamberger, Hannah; Mefford, Heather; de Jonghe, Peter; Yamamoto, Shinya; Weckhuysen, Sarah; Bellen, Hugo J

Brain MRI Findings in Patients in the Intensive Care Unit with COVID-19 Infection

重症监护室新冠肺炎患者的脑部MRI检查结果

Kandemirli, Sedat G; Dogan, Lerzan; Sarikaya, Zeynep T; Kara, Simay; Akinci, Canan; Kaya, Dilaver; Kaya, Yildiz; Yildirim, Duzgun; Tuzuner, Filiz; Yildirim, Mustafa S; Ozluk, Enes; Gucyetmez, Bulent; Karaarslan, Ercan; Koyluoglu, Isil; Demirel Kaya, Hande S; Mammadov, Orkhan; Kisa Ozdemir, Ilkay; Afsar, Nazire; Citci Yalcinkaya, Beyza; Rasimoglu, Sevdinaz; Guduk, Duygu E; Kedir Jima, Ararso; Ilksoz, Aylin; Ersoz, Vildan; Yonca Eren, Meltem; Celtik, Nilufer; Arslan, Serdar; Korkmazer, Bora; Dincer, Saban S; Gulek, Elif; Dikmen, Ibrahim; Yazici, Murathan; Unsal, Serkan; Ljama, Taner; Demirel, Ismail; Ayyildiz, Aykut; Kesimci, Isil; Bolsoy Deveci, Sahika; Tutuncu, Melih; Kizilkilic, Osman; Telci, Lutfi; Zengin, Rehile; Dincer, Alp; Akinci, Ibrahim O; Kocer, Naci

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

SCN4A骨骼肌突变可能在癫痫发作期间的呼吸暂停中发挥作用

Türkdoğan, Dilşad; Matthews, Emma; Usluer, Sunay; Gündoğdu, Aslı; Uluç, Kayıhan; Mannikko, Roope; Hanna, Michael G; Sisodiya, Sanjay M; Çağlayan, Hande S

Pitfalls in genetic testing: the story of missed SCN1A mutations

基因检测中的陷阱:漏诊SCN1A突变的故事

Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah; Carvill, Gemma L; Jaehn, Johanna; Anttonen, Anna-Kaisa; Brilstra, Eva; Caglayan, Hande S; de Kovel, Carolien G; Depienne, Christel; Gaily, Eija; Gennaro, Elena; Giraldez, Beatriz G; Gormley, Padhraig; Guerrero-López, Rosa; Guerrini, Renzo; Hämäläinen, Eija; Hartmann, Corinna; Hernandez-Hernandez, Laura; Hjalgrim, Helle; Koeleman, Bobby P C; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R; Leu, Costin; Marini, Carla; McMahon, Jacinta M; Mei, Davide; Møller, Rikke S; Muhle, Hiltrud; Myers, Candace T; Nava, Caroline; Serratosa, Jose M; Sisodiya, Sanjay M; Stephani, Ulrich; Striano, Pasquale; van Kempen, Marjan J A; Verbeek, Nienke E; Usluer, Sunay; Zara, Federico; Palotie, Aarno; Mefford, Heather C; Scheffer, Ingrid E; De Jonghe, Peter; Helbig, Ingo; Suls, Arvid

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

KCNA2 的新生功能丧失或获得突变可导致癫痫性脑病

Steffen Syrbe #, Ulrike B S Hedrich #, Erik Riesch #, Tania Djémié #, Stephan Müller, Rikke S Møller, Bridget Maher, Laura Hernandez-Hernandez, Matthis Synofzik, Hande S Caglayan, Mutluay Arslan, José M Serratosa, Michael Nothnagel, Patrick May, Roland Krause, Heidrun Löffler, Katja Detert, Thomas D

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

CHD2 的新生功能丧失突变导致发热敏感性肌阵挛性癫痫性脑病,与 Dravet 综合征有共同的特征

Arvid Suls, Johanna A Jaehn, Angela Kecskés, Yvonne Weber, Sarah Weckhuysen, Dana C Craiu, Aleksandra Siekierska, Tania Djémié, Tatiana Afrikanova, Padhraig Gormley, Sarah von Spiczak, Gerhard Kluger, Catrinel M Iliescu, Tiina Talvik, Inga Talvik, Cihan Meral, Hande S Caglayan, Beatriz G Giraldez, J

Estimation of phytochemical content and antioxidant activity of some selected traditional Indian medicinal plants

对几种选定的印度传统药用植物的植物化学成分和抗氧化活性进行评估

Rajurkar, Nilima S; Hande, S M

Enforced expression of Bcl-2 selectively perturbs negative selection of dual reactive antibodies

Bcl-2的强制表达选择性地干扰双反应抗体的阴性选择

Notidis, E; Hande, S; Manser, T