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

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

Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia

睾丸精子提取结果的遗传决定因素:一项针对非梗阻性无精子症男性的大型多中心研究的启示

Riera-Escamilla, Antoni; Arafa, Mohamed M; Farnetani, Ginevra; Xavier, Miguel J; Oud, Manon S; Majzoub, Ahmad A; Ramos, Liliana; Abrardo, Chiara; Spinelli, Matilde; Moreno-Mendoza, Daniel; Defazio, Giuseppe; Ars, Elisabet; Pybus, Marc; Sánchez Curbelo, Josvany R; Elbardisi, Haitham T; Nawaz, Shoaib; Syed, Najeeb; Ruiz-Castané, Eduard; van der Heijden, Godfried W; Fakhro, Khalid A; Veltman, Joris A; Krausz, Csilla

Colonisation of hospital surfaces from low- and middle-income countries by extended spectrum β-lactamase- and carbapenemase-producing bacteria

来自中低收入国家的医院表面被产超广谱β-内酰胺酶和碳青霉烯酶的细菌定植

Nieto-Rosado, Maria; Sands, Kirsty; Portal, Edward A R; Thomson, Kathryn M; Carvalho, Maria J; Mathias, Jordan; Milton, Rebecca; Dyer, Calie; Akpulu, Chinenye; Boostrom, Ian; Hogan, Patrick; Saif, Habiba; Sanches Ferreira, Ana D; Hender, Thomas; Portal, Barbra; Andrews, Robert; Watkins, W John; Zahra, Rabaab; Shirazi, Haider; Muhammad, Adil; Ullah, Syed Najeeb; Jan, Muhammad Hilal; Akif, Shermeen; Iregbu, Kenneth C; Modibbo, Fatima; Uwaezuoke, Stella; Audu, Lamidi; Edwin, Chinago P; Yusuf, Ashiru H; Adeleye, Adeola; Mukkadas, Aisha S; Mazarati, Jean Baptiste; Rucogoza, Aniceth; Gaju, Lucie; Mehtar, Shaheen; Bulabula, Andrew N H; Whitelaw, Andrew; Roberts, Lauren; Chan, Grace; Bekele, Delayehu; Solomon, Semaria; Abayneh, Mahlet; Metaferia, Gesit; Walsh, Timothy R

Burden of Mendelian disorders in a large Middle Eastern biobank

中东大型生物样本库中孟德尔遗传病的负担

Aamer, Waleed; Al-Maraghi, Aljazi; Syed, Najeeb; Gandhi, Geethanjali Devadoss; Aliyev, Elbay; Al-Kurbi, Alya A; Al-Saei, Omayma; Kohailan, Muhammad; Krishnamoorthy, Navaneethakrishnan; Palaniswamy, Sasirekha; Al-Malki, Khulod; Abbasi, Saleha; Agrebi, Nourhen; Abbaszadeh, Fatemeh; Akil, Ammira S Al-Shabeeb; Badii, Ramin; Ben-Omran, Tawfeg; Lo, Bernice; Mokrab, Younes; Fakhro, Khalid A

Mutational landscape of inflammatory breast cancer

炎症性乳腺癌的突变图谱

Bertucci, François; Lerebours, Florence; Ceccarelli, Michele; Guille, Arnaud; Syed, Najeeb; Finetti, Pascal; Adélaïde, José; Van Laere, Steven; Goncalves, Anthony; Viens, Patrice; Birnbaum, Daniel; Mamessier, Emilie; Callens, Céline; Bedognetti, Davide

Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy

炎性乳腺癌的全外显子组谱及新辅助化疗的病理反应

Bertucci, François; Guille, Arnaud; Lerebours, Florence; Ceccarelli, Michele; Syed, Najeeb; Adélaïde, José; Finetti, Pascal; Ueno, Naoto T; Van Laere, Steven; Viens, Patrice; De Nonneville, Alexandre; Goncalves, Anthony; Birnbaum, Daniel; Callens, Céline; Bedognetti, Davide; Mamessier, Emilie

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

Synthesis and analysis of a novel thermal interface material for DC-DC boost converter

本文合成并分析了一种用于直流-直流升压变换器的新型热界面材料。

Hamza, Ali; Mahmood, Mariam; Ulasyar, Abasin; Kazmi, Syed Najeeb Ali; Iqbal, Sheeraz; Ghadi, Yazeed Yasin; Almuflih, Ali Saeed; Elbarbary, Z M S

Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort

先天性促性腺激素低下症的遗传结构:来自葡萄牙队列研究的启示

Carriço, Josianne Nunes; Gonçalves, Catarina Inês; Al-Naama, Asma; Syed, Najeeb; Aragüés, José Maria; Bastos, Margarida; Fonseca, Fernando; Borges, Teresa; Pereira, Bernardo Dias; Pignatelli, Duarte; Carvalho, Davide; Cunha, Filipe; Saavedra, Ana; Rodrigues, Elisabete; Saraiva, Joana; Ruas, Luisa; Vicente, Nuno; Martin Martins, João; De Sousa Lages, Adriana; Oliveira, Maria João; Castro-Correia, Cíntia; Melo, Miguel; Martins, Raquel Gomes; Couto, Joana; Moreno, Carolina; Martins, Diana; Oliveira, Patrícia; Martins, Teresa; Martins, Sofia Almeida; Marques, Olinda; Meireles, Carla; Garrão, António; Nogueira, Cláudia; Baptista, Carla; Gama-de-Sousa, Susana; Amaral, Cláudia; Martinho, Mariana; Limbert, Catarina; Barros, Luisa; Vieira, Inês Henriques; Sabino, Teresa; Saraiva, Luís R; Lemos, Manuel Carlos