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

Systematic phenotype and genotype characterization of Moebius syndrome

莫比乌斯综合征的系统性表型和基因型特征分析

Webb, Bryn D; Jurgens, Julie A; Narisu, Narisu; Zhang, Zhongyang; Barry, Brenda J; Van Ryzin, Carol; Bonnycastle, Lori L; Chan, Wai-Man; Yan, Tingfen; Di Gioia, Silvio Alessandro; Swift, Amy J; MacKinnon, Sarah E; Oystreck, Darren T; Rucker, Janet C; Frempong, Tamiesha; Whitman, Mary C; FitzGibbon, Edmond J; Lee, Janice S; Hao, Ke; Andrews, Caroline; Erazo, Monica; Facio, Flavia M; Shaaban, Sherin; Naidich, Thomas P; Chines, Peter S; Lehky, Tanya J; Toro, Camilo; Gropman, Andrea L; Butman, John A; Zalewski, Christopher K; Brewer, Carmen C; Thurm, Audrey; Snow, Joseph; Paul, Scott M; Brooks, Brian P; Pierpaoli, Carlo; Robson, Caroline D; Hunter, David G; Collins, Francis S; Jabs, Ethylin Wang; Engle, Elizabeth C; Manoli, Irini

Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2

先天性眼外肌纤维化2型患者的视网膜功能障碍

Khan, Arif O; Almutlaq, Mohammed; Oystreck, Darren T; Engle, Elizabeth C; Abu-Amero, Khaled; Bosley, Thomas

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice

人类HOXB1基因的创始突变重现了Hoxb1-/-小鼠的表型。

Webb, Bryn D; Shaaban, Sherin; Gaspar, Harald; Cunha, Luis F; Schubert, Christian R; Hao, Ke; Robson, Caroline D; Chan, Wai-Man; Andrews, Caroline; MacKinnon, Sarah; Oystreck, Darren T; Hunter, David G; Iacovelli, Anthony J; Ye, Xiaoqian; Camminady, Anne; Engle, Elizabeth C; Jabs, Ethylin Wang

Recent progress in understanding congenital cranial dysinnervation disorders

近年来,人们对先天性颅神经支配异常疾病的认识取得了进展。

Oystreck, Darren T; Engle, Elizabeth C; Bosley, Thomas M

Correction: Somatic mutations in cancer development

更正:癌症发展中的体细胞突变

Oystreck, Darren T; Lyons, Christopher J; Luzzatto, Lucio

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

对三个沙特阿拉伯脂蛋白沉积症家族的分子和神经学特征进行分析

Salih, Mustafa A; Abu-Amero, Khaled K; Alrasheed, Saleh; Alorainy, Ibrahim A; Liu, Lu; McGrath, John A; Van Maldergem, Lionel; Al-Faky, Yasser H; AlSuhaibani, Adel H; Oystreck, Darren T; Bosley, Thomas M

The clinical spectrum of homozygous HOXA1 mutations

HOXA1纯合突变的临床谱

Bosley, Thomas M; Alorainy, Ibrahim A; Salih, Mustafa A; Aldhalaan, Hesham M; Abu-Amero, Khaled K; Oystreck, Darren T; Tischfield, Max A; Engle, Elizabeth C; Erickson, Robert P

Clinical characterization of the HOXA1 syndrome BSAS variant

HOXA1综合征BSAS变异体的临床特征

Bosley, T M; Salih, M A; Alorainy, I A; Oystreck, D T; Nester, M; Abu-Amero, K K; Tischfield, M A; Engle, E C