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

Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population

基于大规模下一代测序技术的沙特人群SLCO1B1药物遗传学变异分析

Goljan, Ewa; Abouelhoda, Mohammed; Tahir, Asma; ElKalioby, Mohamed; Meyer, Brian; Monies, Dorota

The clinical utility of rapid exome sequencing in a consanguineous population

快速外显子组测序在近亲结婚人群中的临床应用价值

Monies, Dorota; Goljan, Ewa; Assoum, Mirna; Albreacan, Muna; Binhumaid, Faisal; Subhani, Shazia; Boureggah, Abdulmlik; Hashem, Mais; Abdulwahab, Firdous; Abuyousef, Omar; Temsah, Mohamad H; Alsohime, Fahad; Kelaher, James; Abouelhoda, Mohamed; Meyer, Brian F; Alkuraya, Fowzan S

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

HOPS复合物亚基VPS41的双等位基因变异会导致小脑共济失调和膜转运异常。

Sanderson, Leslie E; Lanko, Kristina; Alsagob, Maysoon; Almass, Rawan; Al-Ahmadi, Nada; Najafi, Maryam; Al-Muhaizea, Mohammad A; Alzaidan, Hamad; AlDhalaan, Hesham; Perenthaler, Elena; van der Linde, Herma C; Nikoncuk, Anita; Kühn, Nikolas A; Antony, Dinu; Owaidah, Tarek Mustafa; Raskin, Salmo; Vieira, Luana Gabriela Dalla Rosa; Mombach, Romulo; Ahangari, Najmeh; Silveira, Tainá Regina Damaceno; Ameziane, Najim; Rolfs, Arndt; Alharbi, Aljohara; Sabbagh, Raghda M; AlAhmadi, Khalid; Alawam, Bashayer; Ghebeh, Hazem; AlHargan, Aljouhra; Albader, Anoud A; Binhumaid, Faisal S; Goljan, Ewa; Monies, Dorota; Mustafa, Osama M; Aldosary, Mazhor; AlBakheet, Albandary; Alyounes, Banan; Almutairi, Faten; Al-Odaib, Ali; Aksoy, Durdane Bekar; Basak, A Nazli; Palvadeau, Robin; Trabzuni, Daniah; Rosenfeld, Jill A; Karimiani, Ehsan Ghayoor; Meyer, Brian F; Karakas, Bedri; Al-Mohanna, Futwan; Arold, Stefan T; Colak, Dilek; Maroofian, Reza; Houlden, Henry; Bertoli-Avella, Aida M; Schmidts, Miriam; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kaya, Namik

SARS-CoV-2-Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease

SARS-CoV-2相关急性呼吸窘迫综合征揭示一名重症联合免疫缺陷病患者

Al-Saud, Bandar; Hazzazi, Khaled M; Mohammed, Reem; Al Najjar, Alaa; Al Hazmi, Tariq; Monies, Dorota; Alkuraya, Fowzan S

Molecular classification of blood and bleeding disorder genes

血液和出血性疾病基因的分子分类

Baz, Batoul; Abouelhoda, Mohamed; Owaidah, Tarek; Dasouki, Majed; Monies, Dorota; Al Tassan, Nada

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining

通过数据挖掘在沙特人群中鉴定出已确立的和候选的转甲状腺素蛋白淀粉样变性变异体

Abouelhoda, Mohamed; Mohty, Dania; Alayary, Islam; Meyer, Brian F; Arold, Stefan T; Fadel, Bahaa M; Monies, Dorota

Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease

对伴有炎症性肠病的G6PC3缺乏相关先天性中性粒细胞减少症进行全面的多组学分析

Dasouki, Majed; Alaiya, Ayodeele; ElAmin, Tanziel; Shinwari, Zakia; Monies, Dorota; Abouelhoda, Mohamed; Jabaan, Amjad; Almourfi, Feras; Rahbeeni, Zuhair; Alsohaibani, Fahad; Almohareb, Fahad; Al-Zahrani, Hazzaa; Guzmán Vega, Francisco J; Arold, Stefan T; Aljurf, Mahmoud; Ahmed, Syed Osman

Higher PD-L1 Immunohistochemical Detection Signal in Frozen Compared to Matched Paraffin-Embedded Formalin-Fixed Tissues

冷冻组织中的 PD-L1 免疫组织化学检测信号高于石蜡包埋的福尔马林固定组织

Hazem Ghebeh, Fatmah A Mansour, Dilek Colak, Akram A Alfuraydi, Amal A Al-Thubiti, Dorota Monies, Monther Al-Alwan, Taher Al-Tweigeri, Asma Tulbah

New or vanishing frontiers: LACC1-associated juvenile arthritis

新兴领域或正在消失的领域:LACC1相关性幼年型关节炎

Al-Mayouf, Sulaiman M; Yateem, Mada; Al-Dusery, Haya; Monies, Dorota; Wakil, Salma; AlShiakh, Manal; AlEnazi, Abdullatif; Aladaileh, Boshra; Alzyoud, Raed; Meyer, Brian

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

四肽重复域 26(鞭毛内运输 56)的双等位基因突变导致人类严重胆道纤毛病

Ranad Shaheen #, Saud Alsahli #, Nour Ewida, Fatema Alzahrani, Hanan E Shamseldin, Nisha Patel, Awad Al Qahtani, Homoud Alhebbi, Amal Alhashem, Tarfa Al-Sheddi, Rana Alomar, Eman Alobeid, Mohamed Abouelhoda, Dorota Monies, Abdulrahman Al-Hussaini, Muneerah A Alzouman, Mohammad Shagrani, Eissa Faqeih