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

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

FSD1L基因的双等位基因变异会导致一种与L1综合征症状重叠的神经发育障碍。

Serpieri, Valentina; Vezain-Mouchard, Myriam; Orsi, Alessia; Lecointre, Maryline; Mazzotta, Concetta; Marguet, Florent; Garbelli, Anna; Marcorelles, Pascale; Celli, Ludovica; Goldenberg, Alice; De Mori, Roberta; Drouot, Nathalie; Petrizzelli, Francesco; Janin, François; Nicolas, Gaël; Smal, Noor; Condoluci, Claudia; Marini, Carla; Tran-Mau-Them, Frederic; Ruault, Valentin; Micalizzi, Alessia; Bione, Silvia; Mazza, Tommaso; Pichiecchio, Anna; Ginevrino, Monia; Weckhuysen, Sarah; Bedois, Alice; Desnous, Béatrice; Hermitte, Laurent; Rabie, Grace; Kanaan, Moien; Gonzalez, Bruno J; Sabbioneda, Simone; Laquerrière, Annie; Saugier-Veber, Pascale; Valente, Enza Maria

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

JKAMP 的双等位基因功能丧失变异会导致与 GPR37 运输失调相关的神经发育综合征。

Chacon-Millan Pilar, Delicato Antonella, Mahmood Arif, Tirozzi Alfonsina, Monfregola Jlenia, Duroure Karine, Serafini Malo, Kroll François, El-Hage Océane, Salah Somaya, Atawneh Osama M, Atik Tahir, Durmusalioglu Enise Avcı, Isik Esra, Almontashiri Naif A M, Tabarki Brahim, Kanaan Moien, Rabie Grace, Torella Annalaura, Spampanato Carmine, Battaglia Domenica Immacolata, Begemann Anais, Steindl Katharina, Rauch Anita, Zweier Markus, Hajianpour Mj, Brigatti Karlla W, Alhashem Amal, Maroofian Reza, Feigerlova Eva, Lambert Laetitia, Feillet Francois, Abbott Mary-Alice, D'Alessio Alfonso Manuel, Gonzaga-Jauregui Claudia, Tawk Marcel, De Matteis Maria Antonietta, Del Bene Filippo, Zollino Marcella, Nigro Vincenzo, Venditti Rossella, Franco Brunella, Morleo Manuela

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

ACTL6B相关常染色体隐性和显性遗传性脑发育障碍的临床和遗传学特征

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, Lukáš; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Rashidi-Nezhad, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer Zohour, Mostafa; El Fahime, Elmostafa; Canavati, Christina; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Elias Maia, Rayana; Mansoor, Salehi; Jain, Vivek; Tawde, Sanjukta; Challa, Viveka Santhosh R; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; ElAwady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor Karimiani, Eshan; Campeau, Philippe M; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph G; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza

Activation of the Piezo1 channel stimulates protein kinase D and migration in human aortic endothelial cells

Piezo1通道的激活可刺激人主动脉内皮细胞中的蛋白激酶D和细胞迁移。

Lone, Moien; Singh, Parvind; Sinnett-Smith, James; Jin, Yi-Ping; Reed, Elaine F; Rozengurt, Enrique

Comparative risk of end-stage renal disease, myocardial infarction and stroke in young and older onset diabetes in UK Biobank

英国生物银行中年轻发病糖尿病患者和年长发病糖尿病患者发生终末期肾病、心肌梗死和中风的比较风险

Kar, Debasish; Molokhia, Mariam; Wierzbicki, Anthony; Koziell, Ania; Byng, Richard; Spicer, Stuart; Farina, Nicolas; Pinkney, Jonathan; Song, Soon; Zabeen, Bedowra; Kar, Shubharthi; Jonnagaddala, Jitendra; Liaw, Siaw-Teng; El-Wazir, Aya; Nath, Mintu; Khan, Moien A B; Sheikh, Aziz; de Lusignan, Simon

Examining shift duration and sociodemographic influences on the well-being of healthcare professionals in the United Arab Emirates: a cross-sectional study

探讨轮班时长和社会人口因素对阿联酋医护人员福祉的影响:一项横断面研究

Bendak, Salaheddine; Elbarazi, Iffat; Alajlouni, Oumara; Al-Rawi, Sana O; Abu Samra, Amal M B; Khan, Moien A B

Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations

拓展与CFAP43基因突变相关的表型谱:一例伴有呼吸系统表现的家族性男性不育症病例报告

Awad, Fawaz; Abukhaizaran, Razan; Al Jabi, Shahira; Nabilsi, Mustafa; Ayasa, Laith A; AbuAlrob, Majd A; Owienah, Haneen; Kassem, Hanin; Kanaan, Moien

The antibacterial effect of human adipose-derived stem cells on LL-37-resistant bacteria

人脂肪干细胞对LL-37耐药菌的抗菌作用

Afzal Haghjoo, Parisa; Mojtahedi, Ali; Ansar, Malek Moien; Ansar, Malek Masoud; Danesh Mobarhan, Safieh

Body Weight Changes During Ramadan Intermittent Fasting: A Cross-Sectional Study of Healthy Adults in Turkey

斋月间歇性禁食期间体重变化:一项针对土耳其健康成年人的横断面研究

Mektebi, Ammar; Bozlar, Mağfiret Abdulveli; Kanjo, Noura; Al-Jebaili, Muhammed Munir; Nasrallah, Youssef; Faris, MoezAlIslam; Khan, Moien Ab

How serious is the risk of HTLV-1 infection in Iranian hemodialysis-dependent patients?

伊朗血液透析依赖型患者感染 HTLV-1 的风险有多严重?

Mohammaditabar, Mahdi; Forghani-Ramandi, Mohammad-Moien; Amirani, Niusha; Saidi, Sofia; Zare, Sama; Hafshejani, Negin Fathi; Mozhgani, Sayed-Hamidreza