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

Systematic Review and Meta-Analysis of the Clinical Features Associated With Seronegative Autoimmune Encephalitis

血清阴性自身免疫性脑炎相关临床特征的系统评价和荟萃分析

Di Cosmo, Leonardo; Mulic-Al Bunni, Smaila; Goh, Yihui; Przybysz, Justyna; Mgbachi, Victor C; Fox, Hannah; Cleaver, Jonathan; Waters, Patrick J; Boček, Hana; Chang, Thashi; Wickramasinghe, Nilanka; Morano, Alessandra; Irani, Sarosh R; Lee, Soon-Tae; Binks, Sophie N M; Handel, Adam E

Simultaneous Intracranial and Spinal Hemorrhage Following Tenecteplase Thrombolysis for ST-Elevation Myocardial Infarction: A Case Report

ST段抬高型心肌梗死患者接受替奈普酶溶栓治疗后同时发生颅内和脊髓出血:病例报告

Palliyaguru, Thamalee; Ruwanpathirana, Pramith; Weeratunga, Praveen; Aravinthan, Mythily; Chang, Thashi

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis

孟德尔遗传的非综合征性和综合征性听力损失基因与老年性耳聋有关。

Cornejo-Sanchez, Diana M; Bharadwaj, Thashi; Dong, Rui; Wang, Gao T; Schrauwen, Isabelle; DeWan, Andrew T; Leal, Suzanne M

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.

全外显子组测序揭示了马里听力障碍的已知基因和候选基因

Yalcouyé Abdoulaye, Schrauwen Isabelle, Traoré Oumou, Bamba Salia, Aboagye Elvis Twumasi, Acharya Anushree, Bharadwaj Thashi, Latanich Rachel, Esoh Kevin, Fortes-Lima Cesar A, de Kock Carmen, Jonas Mario, Maiga Alassane Dit Baneye, Cissé Cheick A K, Sangaré Moussa A, Guinto Cheick O, Landouré Guida, Leal Suzanne M, Wonkam Ambroise

Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly

新型 KIAA0825 变异体是非综合征性轴后多指畸形的致病因素

Abdullah; Bharadwaj, Thashi; Javed, Saffia; Khan, Hammal; Acharya, Anushree; Ji, Weizhen; Umm-E-Kalsoom; Ali, Hamid; Schrauwen, Isabelle; Ahmad, Wasim; Lakhani, Saquib A; Leal, Suzanne M

The Diverse Genetic Landscape of Hearing Impairment in South African Families

南非家庭听力障碍的多样化遗传图谱

Bharadwaj, Thashi; Acharya, Anushree; Manyisa, Noluthando Rearabetswe; Aboagye, Elvis Twumasi; Peigou Wonkam, Ramses; Xhakaza, Lettilia; Popel, Kalinka; de Kock, Carmen; Schrauwen, Isabelle; Wonkam, Ambroise; Leal, Suzanne M

A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa

致病性 COL7A1 变异凸显营养不良性大疱性表皮松解症的半显性遗传

Sattar, Saira; Bharadwaj, Thashi; Kalsoom, Umm-E-; Acharya, Anushree; Khan, Saadullah; Leal, Suzanne M; Schrauwen, Isabelle

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.

外显子组测序揭示了来自卢旺达的一个患有非典型 Cornelia de Lange 综合征的多重家族中 TRMT61 A 的一个新的纯合变异

Uwibambe Esther, Yalcouyé Abdoulaye, Aboagye Elvis Twumasi, Xhakaza Lettilia, Popel Kalinka, Dukuze Norbert, Bharadwaj Thashi, de Kock Carmen, Schrauwen Isabelle, Leal Suzanne M, Mutesa Leon, Wonkam Ambroise

Delayed-onset status epilepticus without cholinergic features in organophosphate poisoning: a case report

有机磷中毒引起的迟发性癫痫持续状态(无胆碱能特征):病例报告

Vimalanathan, Shayani; Ruwanpathirana, Pramith; Chang, Thashi