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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Claudin 24-A novel enhancer of AMPA receptor fidelity.

Claudin 24——AMPA受体保真度的新型增强剂。

Strasdeit Tobias, Amin Ehsan, Obst Sebastian, Biermann Barbara, Newton Thomas P, Kösters Simon Chris, Schouwink Marten, Fedotov Sergey, Shaukat Javeria, Bhattacharya Subhrajit, Aslam Muhammad, Anstötz Max, Okka Faik Nadi, Sevillano Quispe Oscar Gabriel, Bouvain Pascal, Vedyashkin Julia, Sobolevsky Alexander I, Traynelis Stephen F, von Engelhardt Jakob, Erlenhardt Nadine, Hollmann Michael, Klöcker Nikolaj

Oncolytic adenovirus in combination with PD-L1-targeted radioimmunotherapy exerts synergistic antitumor effect against pancreatic cancer

溶瘤腺病毒联合PD-L1靶向放射免疫疗法对胰腺癌具有协同抗肿瘤作用

Yoon, A-Rum; Kim, Seungyoun; Yi, Ji; Zaheer, Javeria; Kim, Hyeongi; Seo, Je Hyeon; Hong, Jinwoo; Lee, Jeongwon; Jeong, Hyeju; Shanmugiah, Joycie; Kim, Ju Hee; Kim, In-Wook; Kim, Jin Su; Yun, Chae-Ok

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

MDGA2纯合功能缺失变异会导致发育性和癫痫性脑病。

Morsy, Heba; Kim, Hyeonho; Jang, Gyubin; Zaki, Maha S; Severino, Mariasavina; Abdelrazek, Ibrahim M; Hussien, Haytham; Self, Eleanor; Albaradie, Raidah Saleem; Bakur, Khadijah; Firoozfar, Zahra; Efthymiou, Stephanie; Noureldeen, Mahmoud M; Nabil, Amira; Alvi, Javeria Raza; Molavi, Fateme; Alavi, Shahryar; Alibakhshi, Reza; Topcu, Vehap; Mancilar, Hanifenur; Uctepe, Eyyup; Yesilyurt, Ahmet; Aldhalaan, Hesham; Showki Tous, Ehab Salah; Alhaddad, Bader; Elbendary, Hasnaa M; Scardamaglia, Annarita; Murphy, David; Yépez, Vicente A; Gagneur, Julien; Omar, Tarek I; Abd Elmaksoud, Marwa; Vandrovocova, Jana; Abdalla, Ebtessam; Reilly, Mary M; Sultan, Tipu; Alkuraya, Fowzan S; Gleeson, Joseph G; Um, Ji Won; Houlden, Henry; Ko, Jaewon; Maroofian, Reza

Comparative machine learning models for early prediction of preterm birth from maternal serum biomarkers

基于母体血清生物标志物对早产进行早期预测的比较机器学习模型

Maqsood, Kaleem; Malik, Javeria; Fatima, Mahnoor; Akram, Sundas; Ahmad, Husna; Roohi, Nabila; Bashir, Shahid

We know what we need: Older adults' and stakeholders' perspectives on ageing, health, and wellbeing in Pakistan

我们知道我们需要什么:巴基斯坦老年人和利益相关者对老龄化、健康和福祉的看法

Sameen, Sonia; Mansoor, Javeria; Lakhdir, Maryam Pyar Ali; Asim, Muhammad; Munyoki, Rose; Greig, Carolyn; Davies, Justine; Usmani, Bilal Ahmed

Correction: Precision vs. cost: Endoscopic ultrasound-guided vs. conventional pancreatic cyst drainage in a resource-limited setting

更正:精准度与成本:资源有限环境下内镜超声引导下胰腺囊肿引流术与传统胰腺囊肿引流术的比较

Altaf, Abeer; Salman, Javeria; Asim, Muhammad; Tahseen, Muhammad Umair; Ayub, Bushra; Siddiqui, Arif; Kadir, Shanil; Siyal, Mehreen; Yaseen, Asma; Zakaria, Noval; Ahmed, Naseer; Kakar, Fahad; Elaqaad, Marwan; Niaz, Saad

Precision vs. cost: Endoscopic ultrasound-guided vs. conventional pancreatic cyst drainage in a resource-limited setting

精准度与成本:资源有限环境下内镜超声引导下胰腺囊肿引流术与传统胰腺囊肿引流术的比较

Altaf, Abeer; Salman, Javeria; Asim, Muhammad; Tahseen, Muhammad Umair; Ayub, Bushra; Siddiqui, Arif; Kadir, Shanil; Siyal, Mehreen; Yaseen, Asma; Zakaria, Noval; Ahmed, Naseer; Kakar, Fahad; Elaqaad, Marwan; Niaz, Saad

Paediatric kidney transplant and school life: a qualitative study of children's academic experiences in Lahore, Pakistan

儿童肾移植与学校生活:巴基斯坦拉合尔儿童学业经历的定性研究

Saleem, Javeria; Asghar, Raja Sajjad; Ali, Fatima; Zafar, Afia; Riaz, Asia; Rashid, Mehnaz; Khan, Fiza; Mehmood, Falak; Amjad, Anamta; Saqib, Laeeqa; Abbas, Aon

Exploring civilian minds and lives during the 2025 India-Pakistan conflict: a phenomenological study in Lahore, Pakistan

探索2025年印巴冲突期间平民的思想和生活:一项在巴基斯坦拉合尔开展的现象学研究

Saleem, Javeria; Hameed, Sajid; Shehzad, Muhammad Naeem; Shahzad, Ruhma Binte; Ali, Najya; Aftab, Muhammad Mohsin; Khan, Salsabeel; Asif, Arooj; Amna, Iqra; Khan, Humaira Zaib