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

A highlight on carbamazepine-induced adverse drug reactions in Saudi Arabia: a retrospective medical records-based study

沙特阿拉伯卡马西平引起不良药物反应的概况:一项基于回顾性病历的研究

Sukkarieh, Hatouf H; Khokhar, Ayesha A; Bustami, Rami T; Karbani, Gulsan A; Alturki, Fatimah A; Alvi, Syed N

Awareness and attitudes of oncology specialists toward dihydropyrimidine dehydrogenase testing in Saudi Arabia

沙特阿拉伯肿瘤专科医生对二氢嘧啶脱氢酶检测的认知和态度

Sukkarieh, Hatouf H; AlSagoor, Turki; Alnuhait, Mohammed; Bustami, Rami; Bryson, Scott; Adem, Fatima Mohammed Kebir; Abdalla, Hana; Karbani, Gulsan

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

中心体NDE1在人类大脑皮层神经发生中的重要作用

Mehmet Bakircioglu, Ofélia P Carvalho, Maryam Khurshid, James J Cox, Beyhan Tuysuz, Tanyeri Barak, Saliha Yilmaz, Okay Caglayan, Alp Dincer, Adeline K Nicholas, Oliver Quarrell, Kelly Springell, Gulshan Karbani, Saghira Malik, Caroline Gannon, Eamonn Sheridan, Moira Crosier, Steve N Lisgo, Susan Lin

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

WNT7A基因突变会导致一系列肢体畸形,包括福尔曼综合征和阿瓦迪/拉斯-罗斯柴尔德/辛泽尔海豹肢畸形综合征。

Woods, C G; Stricker, S; Seemann, P; Stern, R; Cox, J; Sherridan, E; Roberts, E; Springell, K; Scott, S; Karbani, G; Sharif, S M; Toomes, C; Bond, J; Kumar, D; Al-Gazali, L; Mundlos, S

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

对患有扩张型心肌病的婴儿进行ALMS1基因突变检测的重要性

Bond, J; Flintoff, K; Higgins, J; Scott, S; Bennet, C; Parsons, J; Mannon, J; Jafri, H; Rashid, Y; Barrow, M; Trembath, R; Woodruff, G; Rossa, E; Lynch, S; Sheilds, J; Newbury-Ecob, R; Falconer, A; Holland, P; Cockburn, D; Karbani, G; Malik, S; Ahmed, M; Roberts, E; Taylor, G; Woods, C G

Identification of microcephalin, a protein implicated in determining the size of the human brain

鉴定出小头蛋白,一种与决定人脑大小有关的蛋白质

Jackson, Andrew P; Eastwood, Helen; Bell, Sandra M; Adu, Jimi; Toomes, Carmel; Carr, Ian M; Roberts, Emma; Hampshire, Daniel J; Crow, Yanick J; Mighell, Alan J; Karbani, Gulshan; Jafri, Hussain; Rashid, Yasmin; Mueller, Robert F; Markham, Alexander F; Woods, C Geoffrey

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21

Aicardi-Goutières 综合征表现出遗传异质性,其致病基因位于 3p21 染色体上的一个位点 (AGS1)。

Crow, Y J; Jackson, A P; Roberts, E; van Beusekom, E; Barth, P; Corry, P; Ferrie, C D; Hamel, B C; Jayatunga, R; Karbani, G; Kálmánchey, R; Kelemen, A; King, M; Kumar, R; Livingstone, J; Massey, R; McWilliam, R; Meager, A; Rittey, C; Stephenson, J B; Tolmie, J L; Verrips, A; Voit, T; van Bokhoven, H; Brunner, H G; Woods, C G

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34

第三个新的原发性常染色体隐性小头畸形基因位点位于9q34染色体上。

Moynihan, L; Jackson, A P; Roberts, E; Karbani, G; Lewis, I; Corry, P; Turner, G; Mueller, R F; Lench, N J; Woods, C G

The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity

对阿尔斯特罗姆综合征的持续忽视以及遗传同质性的进一步证据

Deeble, V J; Roberts, E; Jackson, A; Lench, N; Karbani, G; Woods, C G

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

原发性常染色体隐性小头畸形(MCPH1)定位于8号染色体短臂22区末端(8p22-pter)。

Jackson, A P; McHale, D P; Campbell, D A; Jafri, H; Rashid, Y; Mannan, J; Karbani, G; Corry, P; Levene, M I; Mueller, R F; Markham, A F; Lench, N J; Woods, C G