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

Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness

SPTBN4相关神经发育障碍伴肌张力低下、神经病变和耳聋的自然史

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03810-4
AlQudairy, Hanan; AlMuhaizea, Mohammad A; Tohary, Mohamed; Alfuraih, Maissa; Alnafisah, Aisha; AlHargan, Aljouhra; Albader, Anoud; Jaber, Hadeel; Almass, Rawan; Albakheet, Albandary; Alsheddi, Terfa; AlObeid, Eman; Alrasheed, Maha M; Al-Odaib, Ali; AlZaidan, Hamad; AlSayed, Moeenaldeen D; Kaya, Namik
发育与干细胞
神经科学
发表日期：2025
文献求助 收藏

Effect of electronic prescription system modifications on reducing prescribing errors in a military hospital

电子处方系统改进对减少军队医院处方错误的影响

期刊:Journal of Pharmaceutical Policy and Practice
影响因子:2.5
doi:10.1080/20523211.2024.2431177
Alanazi, Wafa K; Almutairi, Saleh H; Alamri, Abdullah A; Alsubaie, Muneerah F; Tohary, Omar M; Hussein, Mai T; Alshamrani, Mohammed H; Alharbi, Ghalia G; Alsomali, Hanaa M; Alsadran, Qassem T; Alzuwayed, Omar A; Sumayli, Abdulaziz M; Alrasheedi, Fahad S; Alamari, Yosef A
发表日期：2024
文献求助 收藏

Case report of congenital neutropenia type 4 with glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency

一例先天性中性粒细胞减少症4型伴葡萄糖-6-磷酸酶催化亚基3 (G6PC3) 缺乏症的病例报告

期刊:Clinical Case Reports
影响因子:0.6
doi:10.1002/ccr3.8540
Dhayhi, Nabil S; Mahnashi, Mohammed A; Mokhasha, Alanoud I; Ahmed, Lana F; Shamakhi, Ahmed E; Ageel, Adeeb A; Tohary, Mohammed A; Alhazmi, Abdulaziz H
细胞生物学
中性粒细胞
粒细胞
发表日期：2024
文献求助 收藏

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

YARS1基因中的复发性错义突变p.(Arg367Trp)会导致一种独特的神经发育表型

期刊:Journal of Molecular Medicine-Jmm
影响因子:4.2
doi:10.1007/s00109-021-02124-9
Averdunk, Luisa; Sticht, Heinrich; Surowy, Harald; Lüdecke, Hermann-Josef; Koch-Hogrebe, Margarete; Alsaif, Hessa S; Kahrizi, Kimia; Alzaidan, Hamad; Alawam, Bashayer S; Tohary, Mohamed; Kraus, Cornelia; Endele, Sabine; Wadman, Erin; Kaplan, Julie D; Efthymiou, Stephanie; Najmabadi, Hossein; Reis, André; Alkuraya, Fowzan S; Wieczorek, Dagmar
发育与干细胞
神经科学
发表日期：2021
文献求助 收藏

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

更正：YARS1 基因中的复发性错义突变 p.(Arg367Trp) 会导致一种独特的神经发育表型

期刊:Journal of Molecular Medicine-Jmm
影响因子:4.2
doi:10.1007/s00109-021-02153-4
Averdunk, Luisa; Sticht, Heinrich; Surowy, Harald; Lüdecke, Hermann-Josef; Koch-Hogrebe, Margarete; Alsaif, Hessa S; Kahrizi, Kimia; Alzaidan, Hamad; Alawam, Bashayer S; Tohary, Mohamed; Kraus, Cornelia; Endele, Sabine; Wadman, Erin; Kaplan, Julie D; Efthymiou, Stephanie; Najmabadi, Hossein; Reis, André; Alkuraya, Fowzan S; Wieczorek, Dagmar
发育与干细胞
神经科学
发表日期：2021
文献求助 收藏

Clinical variability and outcome of succinyl-CoA:3-ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases

由单个 OXCT1 基因突变引起的琥珀酰辅酶A：3-酮酸辅酶A转移酶缺乏症的临床表现及预后：17 例报告

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.12248
Alghamdi, Malak A; Tohary, Mohammed; Alzaidan, Hamad; Imtiaz, Faiqa; Al-Hassnan, Zuhair N
XCT
发表日期：2021
文献求助 收藏

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans

SMG8基因中的隐性有害变异扩大了无义介导衰变在人类发育障碍中的作用

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.11.007
Alzahrani, Fatema; Kuwahara, Hiroyuki; Long, Yongkang; Al-Owain, Mohammed; Tohary, Mohamed; AlSayed, Moeenaldeen; Mahnashi, Mohammed; Fathi, Lana; Alnemer, Maha; Al-Hamed, Mohamed H; Lemire, Gabrielle; Boycott, Kym M; Hashem, Mais; Han, Wenkai; Al-Maawali, Almundher; Al Mahrizi, Feisal; Al-Thihli, Khalid; Gao, Xin; Alkuraya, Fowzan S
发育与干细胞
Human
发表日期：2020
文献求助 收藏