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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Mineral-targeted alkaline phosphatase improves bone graft-mediated alveolar bone defect healing in mice

矿物质靶向碱性磷酸酶可改善小鼠骨移植介导的牙槽骨缺损愈合

Sawangsri, Kedith; Phanrungsuwan, Aonjittra; Leblebicioglu, Binnaz; Millán, José Luis; Foster, Brian L

Proceedings of the 12(th) International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders

第十二届神经棘红细胞增多症、科恩综合征及其他VPS13相关疾病国际会议论文集

Vacca, Fabrizio; Yalcin, Binnaz; Kaestner, Lars; Danek, Adrian; Peikert, Kevin; Walker, Ruth H; Ansar, Muhammad

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

SMARCA1 中的致病变异会导致 X 连锁神经发育障碍,该障碍受 NURF 复合物组成调节。

Mirzaa Ghayda M, Yan Keqin, Relator Raissa, Levesque Mathieu, Jayasinghe Pranisha, Timpano Sara, Yalcin Binnaz, Collins Stephan, Ziegler Alban, Pao Emily, Oyama Nora, Brischoux-Boucher Elise, Piard Juliette, Monaghan Kristin G, Guillen Sacoto Maria J, Dobyns William B, Park Kristen L, Fernández-Mayoralas Daniel Martin, Fernández-Jaén Alberto, Jayakar Parul, Palomares-Bralo María, Santos-Simarro Fernando, Brusco Alfredo, Antona Vincenzo, Giorgio Elisa, Kvarnung Malin, Isidor Bertrand, Conrad Solène, Cogné Benjamin, Deb Wallid, Stuurman Kyra E, Štěrbová Katalin, Smal Noor, Weckhuysen Sarah, Oegema Renske, Innes A Micheil, Koboldt Daniel C, Ben-Omran Tawfeg, Yeh Rebecca C, Kruer Michael C, Bakhtiari Somayeh, Papavasiliou Antigone, Moutton Sébastien, Nambot Sophie, Chanprasert Sirisak, Paolucci Sarah A, Miller Kait, Burton Barbara, Kim Katherine, O'Heir Emily, Bruwer Zandre, Donald Kirsten A, Kleefstra Tjitske, Goldstein Amy, Angle Brad, Bontempo Kelly, Miny Peter, Joset Pascal, Demurger Florence, Hobson Emma, Pang Lewis, Carpenter Lori, Li Dong, Bonneau Dominique, Sadikovic Bekim, Picketts David J

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.

SNAPIN 基因编码逆行动力蛋白衔接蛋白,其双等位基因有害变异会导致产前发病的神经发育障碍。

Yousaf Hammad, de Koning Maayke A, Khan Kamal, Gilmore Kelly L, Hoffer Mariëtte J V, Kellaris Georgios, Lanone Sophie, Dagouassat Maylis, Ullah Farid, Adama van Scheltema Phebe N, Heron Delphine, Capri Yline, Kuechler Alma, Schweiger Bernd, Haak Monique C, Keren Boris, Tran Mau Them Frederic, Peeters-Scholte Cacha M P C D, Kaiser Frank J, Koopmann Tamara T, Mei Hailiang, Yalcin Binnaz, Depienne Christel, Vora Neeta L, Santen Gijs W E, Davis Erica E

Assessing Toxicological Safety of EverX Posterior and Filtek Ultimate: An In-Depth Extractable and Leachable Study Under ISO 10993-17 and 10993-18 Standards

评估 EverX 后部和 Filtek Ultimate 的毒理学安全性:根据 ISO 10993-17 和 10993-18 标准进行的深入萃取物和浸出物研究

Aydınoǧlu, Aysu; Erdem Hepşenoǧlu, Yelda; Yalçın, Can Özgür; Saǧır, Kadir; Ölçer Us, Yeşim; Eroǧlu, Şeyda Erşahan; Hazar Yoruç, Afife Binnaz

Objective and subjective hand properties of cotton soybean protein elastane and cotton cashmere elastane blended denim fabrics

棉豆蛋白弹性纤维和棉羊绒弹性纤维混纺牛仔布的客观和主观手感特性

Özkan, Esra Taştan; Kaplangiray, Binnaz; Bozeli, Ceren Başak; Sener, Yasemin

Patient coaching for deep inspiration breath hold decreases set-up duration and left anterior descending artery dose for left-sided breast cancer radiotherapy

对患者进行深吸气屏气指导可减少左侧乳腺癌放射治疗的准备时间和左前降支动脉受照剂量。

Kefeli, Aysegul Ucuncu; Diremsizoglu, Umut; Erdogan, Sevda; Karabey, Aysegul Unal; Konuk, Aykut Oguz; Tirpanci, Berna; Aksu, Maksut Gorkem; Sarper, Emine Binnaz

Histological evaluation of different concentrations of hyaluronic-acid-added zinc oxide eugenol on rat molar pulp

不同浓度透明质酸添加氧化锌丁香油对大鼠磨牙牙髓组织学影响的评价

Bektas, Irmak; Hazar Yoruc, Afife Binnaz; Cinel, Leyla; Ekinci, Meltem; Horoz, Seher Eda; Turet, Deniz Mukaddes; Mentes, Ali

Strategies to Reduce Left Anterior Descending Artery and Left Ventricle Organ Doses in Radiotherapy Planning for Left-Sided Breast Cancer

降低左侧乳腺癌放射治疗计划中左前降支动脉和左心室器官剂量的策略

Diremsizoglu, Umut; Topal, Nezihan; Konuk, Aykut Oguz; Suyusal, Ibrahim Halil; Genc, Dogacan; Ari, Onur; Cevik, Hasan Furkan; Kefeli, Aysegul Ucuncu; Aksu, Maksut Gorkem; Sarper, Emine Binnaz