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

Desbuquois dysplasia and cardiovascular complications: a retrospective cohort study

Desbuquois 发育不良与心血管并发症:一项回顾性队列研究

Öztürk, Musa; Türk, Merve Tanrısever; Demir, Gizem Ürel; Ütine, Gülen Eda; Ertuğrul, İlker; Aypar, Ebru; Karagöz, Tevfik; Alehan, Dursun; Kiper, Pelin Özlem Şimşek; Aykan, Hayrettin Hakan

Long-term outcome of children with newly diagnosed pulmonary arterial hypertension: results from the global TOPP registry

新诊断肺动脉高压患儿的长期预后:来自全球TOPP注册研究的结果

Ploegstra, Mark-Jan; Ivy, David Dunbar; Beghetti, Maurice; Bonnet, Damien; Alehan, Dursun; Ablonczy, Laszlo; Mattos, Sandra; Bowers, David; Humpl, Tilman; Berger, Rolf M F

Pulmonary arterial hypertension associated with congenital heart disease: lessons learnt from the large Turkish Nationwide Registry (THALES)

先天性心脏病相关肺动脉高压:从土耳其全国大型登记研究(泰雷兹)中汲取的经验教训

Kücükoglu, Serdar M; Kaymaz, Cihangir; Alehan, Dursun; Kula, Serdar; Akcevin, Atıf; Celiker, Alpay; Cicek, Sertac M; Tokgözoglu, Lale S; Kentli, Suleyman

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

ALG1-CDG:39例未报道患者的临床和分子特征分析

Ng, Bobby G; Shiryaev, Sergey A; Rymen, Daisy; Eklund, Erik A; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E; Alehan, Fusun; Midro, Alina T; Bamshad, Michael J; Barone, Rita; Berry, Gerard T; Brumbaugh, Jane E; Buckingham, Kati J; Clarkson, Katie; Cole, F Sessions; O'Connor, Shawn; Cooper, Gregory M; Van Coster, Rudy; Demmer, Laurie A; Diogo, Luisa; Fay, Alexander J; Ficicioglu, Can; Fiumara, Agata; Gahl, William A; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A; He, Miao; Jaeken, Jaak; James, Philip M; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J; Lachlan, Katherine; Lam, Christina; Yaplito-Lee, Joy; Nickerson, Deborah A; Peters, Heidi L; Race, Valerie; Régal, Luc; Rush, Jeffrey S; Rutledge, S Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E; Trapane, Pamela; Sanchez-Valle, Amarilis; Vilain, Eric; Vøllo, Arve; Waechter, Charles J; Wang, Raymond Y; Wolfe, Lynne A; Wong, Derek A; Wood, Tim; Yang, Amy C; Matthijs, Gert; Freeze, Hudson H

Is transesophageal electrophysiologic study valuable in children with successful radiofrequency ablation of supraventricular tachycardia on follow-up for recurrence?

对于接受射频消融治疗后成功治愈室上性心动过速的儿童,在随访观察其是否出现复发,经食道电生理检查是否有价值?

Gülgün, Mustafa; Özer, Sema; Karagöz, Tevfik; Akın, Alper; Aykan, Hayrettin Hakan; Özkutlu, Süheyla; Alehan, Dursun; Çeliker, Alpay

Clinical and electrophysiological evaluation of pediatric Wolff-Parkinson-White patients

儿童沃尔夫-帕金森-怀特综合征患者的临床和电生理评估

Yıldırım, Işıl; Özer, Sema; Karagöz, Tevfik; Şahin, Murat; Özkutlu, Süheyla; Alehan, Dursun; Çeliker, Alpay

West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation

韦斯特综合征伴有新的染色体异常:8P部分三体和9P部分单体,由家族性不平衡相互易位引起。

Erol, Ilknur; Saygı, Semra; Demir, Şenay; Alehan, Fusun; Sahin, Feride Iffet

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms

新的惊厥症突变为甘氨酸受体的组装、转运和激活机制提供了新的见解

Bode, Anna; Wood, Sian-Elin; Mullins, Jonathan G L; Keramidas, Angelo; Cushion, Thomas D; Thomas, Rhys H; Pickrell, William O; Drew, Cheney J G; Masri, Amira; Jones, Elizabeth A; Vassallo, Grace; Born, Alfred P; Alehan, Fusun; Aharoni, Sharon; Bannasch, Gerald; Bartsch, Marius; Kara, Bulent; Krause, Amanda; Karam, Elie G; Matta, Stephanie; Jain, Vivek; Mandel, Hanna; Freilinger, Michael; Graham, Gail E; Hobson, Emma; Chatfield, Sue; Vincent-Delorme, Catherine; Rahme, Jubran E; Afawi, Zaid; Berkovic, Samuel F; Howell, Owain W; Vanbellinghen, Jean-François; Rees, Mark I; Chung, Seo-Kyung; Lynch, Joseph W

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

新的突变巩固了 KCTD7 作为进行性肌阵挛性癫痫基因的地位

Maria Kousi, Verneri Anttila, Angela Schulz, Stella Calafato, Eveliina Jakkula, Erik Riesch, Liisa Myllykangas, Hannu Kalimo, Meral Topçu, Sarenur Gökben, Fusun Alehan, Johannes R Lemke, Michael Alber, Aarno Palotie, Outi Kopra, Anna-Elina Lehesjoki

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

一例临床异常病例,其父源性8p23.3至8p12部分三体,包括母源性8p23.3同源二体:病例报告

Aktas, Dilek; Weise, Anja; Utine, Eda; Alehan, Dursun; Mrasek, Kristin; von Eggeling, Ferdinand; Thieme, Heike; Tuncbilek, Ergul; Liehr, Thomas