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

Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome

将ITPR1杂合变异的早期儿童期表现扩展到先天性共济失调和吉莱斯皮综合征之外

Terry, Lara E; Dubbs, Holly; Markwalter, Kelly H; Malik, Sundeep; Tintos-Hernandez, Jesus A; Yule, David I; Ortiz-Gonzalez, Xilma R

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Mechanism of Cas9 inhibition by AcrIIA11.

AcrIIA11抑制Cas9的机制

Dillard Kaylee E, Zhang Hongshan, Dubbs Lianne Z, Chou Chia-Wei, Terrace Cynthia, Javanmardi Kamyab, Kim Wantae, Forsberg Kevin J, Finkelstein Ilya J

Intrasexual competition predicts willingness to engage in risky weight loss behaviors: sex differences and similarities

同性竞争预测参与高风险减肥行为的意愿:性别差异与相似之处

Dubbs, Shelli L; Becker, D Vaughn; Pick, Cari

16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome

16q24.3微缺失破坏ANKRD11上游非编码区导致KBG综合征

Iwata-Otsubo, Aiko; Rippert, Alyssa L; Balciuniene, Jorune; Fiordaliso, Sarah K; Chen, Robert; Markose, Preetha; Skraban, Cara M; Gray, Christopher; Zackai, Elaine H; Dubbs, Holly A; Deardorff, Matthew A; Conlin, Laura K; Izumi, Kosuke

Natural history of epilepsy in FOXG1 Syndrome

FOXG1综合征癫痫的自然病程

Rhodes, Caleb; Rees, Benjamin; Dubbs, Holly; Lesser, Mollie; Morgan, Lucas; Benke, Tim A; Percy, Alan; Neul, Jeffrey L; Marsh, Eric D

Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder

CDKL5 5'非翻译区缺失会导致CDKL5缺乏症

Haviland, Isabel; Hector, Ralph D; Swanson, Lindsay C; Verran, Aubrie Soucy; Sherrill, Emma; Frazier, Zoë; Denny, AnneMarie M; Lucash, Jenna; Zhang, Bo; Dubbs, Holly A; Marsh, Eric D; Weisenberg, Judith L; Leonard, Helen; Crippa, Milena; Cogliati, Francesca; Russo, Silvia; Suter, Bernhard; Rajaraman, Rajsekar; Percy, Alan K; Schreiber, John M; Demarest, Scott; Benke, Timothy A; Chopra, Maya; Yu, Timothy W; Olson, Heather E

Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration

β-螺旋桨蛋白相关神经退行性疾病健康概念的确定

Kotes, Emma; Gavazzi, Francesco; Woidill, Sarah; Sevagamoorthy, Anjana; Yang, Eric; Smith, Vanessa; Dubbs, Holly; Pierce, Samuel R; Pucci, Kristy; Vithayathil, Joseph; Thakur, Nivedita; Adang, Laura A

Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

常染色体显性遗传性HK1相关神经发育障碍伴视觉缺陷和脑部异常(NEDVIBA):一种新出现的线粒体疾病

Ng, Bobby G; Eklund, Erik A; Rosenfeld, Jill A; Elias, Abdallah F; Abu-El-Haija, Aya; Bris, Celine; Barth, Magalie; Chae, Jong-Hee; Choi, Murim; Dubbs, Holly A; Fratter, Carl; Foulds, Nicola; Gamble, Candace; Gavrilova, Ralitza H; Haven, Jaclyn; Hoffman, Trevor L; Hunter, Jill V; Larson, Austin; Lotze, Timothy Edward; Magoulas, Pilar; Magness, Emily C; Bootin, Debra M; Marsh, Eric D; Nesbitt, Victoria; Pastore, Matthew T; Poulton, Joanna; Rahman, Shamima; Scaglia, Fernando; Murali, Chaya; Posey, Jennifer; Rotenberg, Joshua; Schmalz, Betsy; Shinde, Deepali N; Powis, Zöe; Sukenik-Halevy, Rivka; Truxal, Kristen V; Uster, Tami; Machado Bressan Wilke, Matheus Vernet; Klee, Erik; Woo, Hyewon; Younkin, Donald; Zhao, Jianhua; Granadillo, Jorge; Lalani, Seema; Chitayat, David; Chung, Wendy K; Freeze, Hudson H; Okur, Volkan

Enhancing effect of natural adjuvant, panduratin A, on antibacterial activity of colistin against multidrug-resistant Acinetobacter baumannii

天然佐剂潘多汀A对粘菌素对抗耐多药鲍曼不动杆菌的抗菌活性的增强作用

Nalumon Thadtapong, Soraya Chaturongakul, Chanita Napaswad, Padungsri Dubbs, Sunhapas Soodvilai