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

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

ACBD6双等位基因变异会导致一种神经发育综合征,伴有进行性且复杂的运动障碍。

Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A; Rudnik-Schöneborn, Sabine; Schatz, Ulrich A; Baggelaar, Marc P; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Pinto Basto, Jorge; Kortüm, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenço, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R; Zaman, Mashaya; Schrader, Tina A; Chung, Wendy K; Guerrini, Renzo; Lupski, James R; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W; Varshney, Gaurav K; Houlden, Henry; Maroofian, Reza

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

CLRN2基因的双等位基因变异会导致人类非综合征性听力损失。

Vona, Barbara; Mazaheri, Neda; Lin, Sheng-Jia; Dunbar, Lucy A; Maroofian, Reza; Azaiez, Hela; Booth, Kevin T; Vitry, Sandrine; Rad, Aboulfazl; Rüschendorf, Franz; Varshney, Pratishtha; Fowler, Ben; Beetz, Christian; Alagramam, Kumar N; Murphy, David; Shariati, Gholamreza; Sedaghat, Alireza; Houlden, Henry; Petree, Cassidy; VijayKumar, Shruthi; Smith, Richard J H; Haaf, Thomas; El-Amraoui, Aziz; Bowl, Michael R; Varshney, Gaurav K; Galehdari, Hamid

PROTOCOL: Studies of the effectiveness of interventions to improve the welfare of those affected by, and at risk of, homelessness in high-income countries: An evidence and gap map

方案:高收入国家改善受无家可归影响和面临无家可归风险人群福祉的干预措施有效性研究:证据和差距图

White, Howard; Saran, Ashrita; Fowler, Ben; Portes, Audrey; Fitzpatrick, Suzanne; Teixeira, Ligia

Exonuclease domain mutants of yeast DIS3 display genome instability

酵母 DIS3 的核酸外切酶结构域突变体表现出基因组不稳定性

Karissa L Milbury, Biplab Paul, Azra Lari, Claire Fowler, Ben Montpetit, Peter C Stirling

Chronophin coordinates cell leading edge dynamics by controlling active cofilin levels

Chronophin 通过控制活性辅酶丝切蛋白水平来协调细胞前沿动力学

Violaine Delorme-Walker, Ji-Yeon Seo, Antje Gohla, Bruce Fowler, Ben Bohl, Céline DerMardirossian

VEGF receptors and neuropilins are expressed in the urothelial and neuronal cells in normal mouse urinary bladder and are upregulated in inflammation.

VEGF 受体和神经纤毛蛋白在正常小鼠膀胱的尿路上皮细胞和神经元细胞中表达,并在炎症中上调

Saban Marcia R, Backer Joseph M, Backer Marina V, Maier Julie, Fowler Ben, Davis Carole A, Simpson Cindy, Wu Xue-Ru, Birder Lori, Freeman Michael R, Soker Shay, Hurst Robert E, Saban Ricardo

Urothelial expression of neuropilins and VEGF receptors in control and interstitial cystitis patients.

对照组和间质性膀胱炎患者尿路上皮中神经纤毛蛋白和 VEGF 受体的表达

Saban Ricardo, Saban Marcia R, Maier Julie, Fowler Ben, Tengowski Mark, Davis Carole A, Wu Xue-Ru, Culkin Daniel J, Hauser Paul, Backer Joseph, Hurst Robert E