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

The biomedical landscape of genomic structural variation in the qatari population

卡塔尔人群基因组结构变异的生物医学概况

Aliyev, Elbay; Syed, Najeeb; Visconti, Alessia; Aliyev, Taghi; Belkadi, Aziz; Ghorbani, Mohammadmersad; Rossi, Niccolò; Naeem, Haroon; Gandhi, Geethanjali Devadoss; Thareja, Gaurav; Al-Maraghi, Aljazi; Aamer, Waleed; Ibrahim, Amal Abdulsalam; Shaath, Rulan; Al-Ajli, Farooq Omar; Razali, Rozaimi Mohamad; Sedlazeck, Fritz J; Davila, Sonia; Akil, Ammira; Suhre, Karsten; Mokrab, Younes; Falchi, Mario; Fakhro, Khalid A

A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes

对纳米孔长读长基因组串联重复序列基因分型方法的全面评估

Aliyev, Elbay; Avvaru, Akshay; De Coster, Wouter; Arner, Garrison M; Nyaga, Denis M; Gibson, Sophia B; Weisburd, Ben; Gu, Bida; Gonzaga-Jauregui, Claudia; Chaisson, Mark J P; Miller, Danny E; Ostrowski, Elizabeth; Dashnow, Harriet

Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery

近乎完整的中东基因组有助于更精确地确定纯合性,并增强致病变异和人群特异性变异的发现。

Mohammadmersad Ghorbani ,Shabir Moosa ,Zenab Siddig ,Radi Farhad ,Haroon Naeem ,William T Harvey ,Francesco Kumara Mastrorosa ,Katherine M Munson ,Rozaimi Mohamad Razali ,Elbay Aliyev ,Ilhame Diboun ,Rawan Abouelhassan ,Melissa Tauro ,Sondoss Hassan ,Rebecca Mathew ,Muna Al Hashmi ,Lisa S Mathew ,Kun Wang ,Abdul Rahman Salhab ,Fazulur Rehaman Vempalli ,Ahmed El Khouly ,Sara Tomei ,Khalid A Fakhro ,Alia Satti ,Ruba Benini ,Arang Rhie ,Evan E Eichler ,Younes Mokrab

Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure

不明原因的完全受精失败病例中,转录因子结合和调控网络的突变破坏。

Ata, Manar; Choucair, Fadi; Djekidel, Mohamed Nadhir; Sousa Esteves, Maria; Al Ali, Fatima; Nawaz, Shoaib; El Taha, Lina; Soloviov, Oleksandr; Sathappan, Abbirami; Aliyev, Elbay; Fakhro, Khalid; Awwad, Johnny; Avella, Matteo A

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

MINPP1 的双等位基因功能丧失变异导致脑桥小脑发育不全,并伴有特征性的严重神经发育障碍

Al-Maraghi Aljazi, Shaath Rulan, Ford Katherine, Aamer Waleed, AlRayahi Jehan, Hussein Sura, Aliyev Elbay, Agrebi Nourhen, Kohailan Muhammad, Hubrack Satanay Z, Palaniswamy Sasirekha, Kennedy Adam D, DeBalsi Karen L, Elsea Sarah H, Benini Ruba, Ben-Omran Tawfeg, Lo Bernice, Akil Ammira S A, Fakhro Khalid A

Assessing the relationship between suicidality and inflammatory biomarkers: C-reactive protein/albumin and neutrophil/albumin ratios in an inpatient setting

评估自杀倾向与炎症生物标志物之间的关系:住院患者的 C 反应蛋白/白蛋白比值和中性粒细胞/白蛋白比值

Elbay, Rumeysa Yeni; Erdil, Seda Sarikaya; İlhan, Aysegul Hopur

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report

长读长测序在一名患有科芬-西里斯综合征8型的儿科患者中发现了SMARCC2基因的新型从头倒位:病例报告

Ibrahim, Amal Abdulsalam; Aamer, Waleed; Aliyev, Elbay; Al-Maraghi, Aljazi; Elhag, Saba F; Abdi, Mona; Syed, Najeeb; Palaniswamy, Sasirekha; Akil, Ammira S A; Kamal, Madeeha; Fakhro, Khalid A

Quorum-Sensing inhibition by furanone compounds and therapeutic effects on Pseudomonas aeruginosa keratitis rabbit model

呋喃酮类化合物对群体感应的抑制作用及其对铜绿假单胞菌角膜炎兔模型的治疗效果

Dal, Aleyna; Hekimoğlu, Rümeysa; Sümbül, Bilge; Balıbey, Fatmanur Babalı; Gökçe, Zeynep Özman; Akbulut, Ersin; Elbay, Ahmet

From Waste to Worth: Upcycling Plastic into High-Value Carbon-Based Nanomaterials

变废为宝:将塑料升级再造成高价值碳基纳米材料

M Abdelfatah, Ahmed; Hosny, Mohamed; S Elbay, Ahmed; El-Maghrabi, Nourhan; Fawzy, Manal

Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study

一项跨人群研究表明,KCNJ2基因的罕见变异与低密度脂蛋白胆固醇水平相关。

Rossi, Niccolò; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D; Hysi, Pirro G; Fakhro, Khalid A; Falchi, Mario