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

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

BRF2 的双等位基因变异与围产期死亡和颅面畸形有关

Mattioli Francesca, Friðriksdóttir Rún, Hebert Anne, Bassani Sissy, Ibrahim Nazia, Naz Shagufta, Chrast Jacqueline, Pailler-Pradeau Clara, Oddsson Ásmundur, Sulem Patrick, Halldorsson Gisli H, Melsted Páll, Guðbjartsson Daníel F, Palombo Flavia, Pippucci Tommaso, Nouri Nayereh, Seri Marco, Farrow Emily G, Saunders Carol J, Guex Nicolas, Ansar Muhammad, Stefansson Kari, Reymond Alexandre

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort

巴基斯坦大型人群遗传性视网膜疾病的全面遗传图谱

Ullah, Mukhtar; Rehman, Atta Ur; Quinodoz, Mathieu; Rashid, Abdur; Cancellieri, Francesca; Munir, Asad; Kaminska, Karolina; Iqbal, Afia; Javed, Samra; Dawood, Muhammad; Baig, Hafiz Muhammad Azhar; Saleha, Shamim; Naz, Shagufta; Kausar, Humera; Waryah, Ali Muhammad; Superti-Furga, Andrea; Ansar, Muhammad; Rivolta, Carlo

Further delineation of the SCAF4-associated neurodevelopmental disorder

进一步阐明SCAF4相关神经发育障碍

Schmid, Cosima M; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B; Falb, Ruth J; Müller, Amelie J; Linden, Tobias; Haldeman-Englert, Chad R; Ockeloen, Charlotte W; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M; Elloumi, Houda Z; Person, Richard; Zou, Fanggeng; Kahle, Juliette J; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J M; Elshafie, Reem M; Alsharhan, Hind; Hillman, Paul R; Dunnington, Leslie A; Braakman, Hilde M H; McKee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S; Gordon, Patricia; Schuhmann, Sarah; Reis, André; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tümer, Zeynep; Hammer-Hansen, Sophia; Krüger Sølyst, Sofus; Steigerwald, Connolly G; Abreu, Nicolas J; Faust, Helene; Müller-Nedebock, Amica; Tran Mau-Them, Frédéric; Sticht, Heinrich; Zweier, Christiane

EXPRESSION OF CONNEXIN-40 AND INTERLEUKIN 6 GENES IN PATIENTS WITH ATRIAL FIBRILLATION

心房颤动患者中连接蛋白-40和白细胞介素6基因的表达

Sharif, Saima; Ijaz, Hafsa; Rafaqat, Saira; Waris, Shabina; Naz, Shagufta; Klisic, Aleksandra

Efficacy of soil drench and foliar application of iron nanoparticles on the growth and physiology of Solanum lycopersicum L. exposed to cadmium stress

土壤灌溉和叶面喷施铁纳米颗粒对镉胁迫下番茄(Solanum lycopersicum L.)生长和生理的影响

Ahmad, Asma; Javad, Sumera; Iqbal, Sumera; Shahid, Tayyaba; Naz, Shagufta; Shah, Anis Ali; Shaffique, Shifa; Gatasheh, Mansour K

Site-specific prediction of O-GlcNAc modification in proteins using evolutionary scale model

利用进化尺度模型对蛋白质中的 O-GlcNAc 修饰进行位点特异性预测

Khalid, Ayesha; Kaleem, Afshan; Qazi, Wajahat; Abdullah, Roheena; Iqtedar, Mehwish; Naz, Shagufta

Cardiometabolic Risk Factors Related to Atrial Fibrillation and Metabolic Syndrome in the Pakistani Population

巴基斯坦人群中与房颤和代谢综合征相关的心血管代谢风险因素

Rafaqat, Saira; Sharif, Saima; Naz, Shagufta; Gluscevic, Sanja; Mercantepe, Filiz; Ninic, Ana; Klisic, Aleksandra

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

GEMIN5 TPR结构域中的双等位基因截断变异与智力障碍和脑萎缩相关

Ibrahim, Nazia; Naz, Shagufta; Mattioli, Francesca; Guex, Nicolas; Sharif, Saima; Iqbal, Afia; Ansar, Muhammad; Reymond, Alexandre

Elicitation of the in vitro Cultures of Selected Varieties of Vigna radiata L. With Zinc Oxide and Copper Oxide Nanoparticles for Enhanced Phytochemicals Production

利用氧化锌和氧化铜纳米颗粒诱导选定品种绿豆(Vigna radiata L.)体外培养物,以提高植物化学物质的产量

Iqbal, Zunera; Javad, Sumera; Naz, Shagufta; Shah, Anis Ali; Shah, Adnan Noor; Paray, Bilal Ahmad; Gulnaz, Aneela; Abdelsalam, Nader R

Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma

对 CYP1B1 基因进行突变筛查,在巴基斯坦近亲结婚家庭中发现了 13 个新的致病变异,这些变异会导致原发性先天性青光眼。

Tehreem, Raeesa; Arooj, Anam; Siddiqui, Sorath Noorani; Naz, Shagufta; Afshan, Kiran; Firasat, Sabika