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

The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers

12种罕见神经发育障碍儿童的沟通能力谱:一项针对照护者的定性研究

Zigler, Christina K; McFatrich, Molly; Lucas, Nicole; Plyler, Kate; Zapata-Leiva, Leslie; Gordon, Kelly; Jones, Harrison N; Lin, Li; Kern, Jennifer; Radar, Abigail; Chen, Dandan; Bergelson, Elika; Still, Kate; Hinger, Brigette; Delagrammatikas, Christal G; Poliquin, Sarah; Short, Brittany P; Marfia-Ash, Liz; Stephens, Kimberly; Oyler, Haley O; Graglia, J Michael; Worth, Kali; Son Rigby, Charlene; Goss, James R; Bigelow, Bo; Bliss, Geraldine; Beatty, Karen; Schust Myers, Leah; Thelen, Melissa; Summerfield, Nuala; Bichell, Terry Jo; Reeve, Bryce B

Efficient Fluorescent Labeling of Human Trophoblast Stem Cells via a CRISPR/Cas9-Mediated Knock-In Approach in a Safe Harbor Locus.

利用 CRISPR/Cas9 介导的基因敲入技术在安全港位点对人类滋养层干细胞进行高效荧光标记。

Zhang Hengshan, Zhou Jie, Orsolini Morgan, Zhao Anthony, Takhirov Askar, Schust Danny J

American Epilepsy Society Clinical Practice Guideline: Infantile Epilepsy

美国癫痫学会临床实践指南:婴儿癫痫

Freedman, Daniel; Babatunde, Ifeoluwa; Morgan, Rebecca L; Abu-Sawwa, Renad; Albert, Dara; Behbahani, Mandana; Chapman, Kevin; Fecske, Erin; Gaillard, William Davis; Jones, Monika; Meskis, Mary Anne; Myers, Leah Schust; Nye, Kim; Oluigbo, Chima; Pfeifer, Heidi H; Shellhaas, Reneé A; Thompson, Lindsey; Weiner, Howard L; Wusthoff, Courtney J; Yozawitz, Elissa

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Genetic Diversity in the Suppressyn Gene Sequence: From Polymorphisms to Loss-of-Function Mutations.

抑制基因序列的遗传多样性:从多态性到功能丧失突变

Sugimoto Jun, Schust Danny J, Nagamatsu Takeshi, Jinno Yoshihiro, Kudo Yoshiki

Development of apical out trophoblast stem cell derived organoids to model early human pregnancy.

利用顶端滋养层干细胞衍生的类器官构建人类早期妊娠模型

Zhou J, Sheridan M A, Tian Y, Dahlgren K J, Messler M, Peng T, Zhao A, Ezashi T, Schulz L C, Ulery B D, Roberts R M, Schust D J

Variations in blood levels of the anti-fusogenic endogenous retroviral protein suppressyn are associated with fetal growth outcome in preeclampsia.

抗融合内源性逆转录病毒蛋白 suppressyn 的血液水平变化与先兆子痫患者的胎儿生长结果相关。

Sugimoto Jun, Schust Danny J, Nagamatsu Takeshi, Yano Eriko, Sugimoto Makiko, Yamazaki Tomomi, Kudo Yoshiki

The 11th Congress of Asian Sleep Research Society and 8th Asian Forum on Chronobiology, 2025: Abstracts of the 11th Congress of Asian Sleep Research Society and 8th Asian Forum on Chronobiology, February 8–9, 2025, at Hotel Andaz, Aerocity, New Delhi, India

第十一届亚洲睡眠研究学会大会暨第八届亚洲时间生物学论坛,2025:第十一届亚洲睡眠研究学会大会暨第八届亚洲时间生物学论坛摘要,2025年2月8日至9日,印度新德里机场城安达仕酒店

Roberts, R Michael; Loh, Kyle M; Amita, Mitsuyoshi; Bernardo, Andreia S; Adachi, Katsuyuki; Alexenko, Andrei P; Schust, Danny J; Schulz, Laura C; Telugu, Bhanu Prakash V L; Ezashi, Toshihiko; Pedersen, Roger A

Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders

扩展的临床表型谱与SCN2A相关疾病的变异功能相关

Berg, Anne T; Thompson, Christopher H; Myers, Leah Schust; Anderson, Erica; Evans, Lindsey; Kaiser, Ariela J E; Paltell, Katherine; Nili, Amanda N; DeKeyser, Jean-Marc L; Abramova, Tatiana V; Nesbitt, Gerry; Egan, Shawn M; Vanoye, Carlos G; George, Alfred L Jr

Control of Surface Plasmon Propagation and Terahertz Near-Field Waveforms in a Scanning Tunneling Microscope

扫描隧道显微镜中表面等离子体激元传播和太赫兹近场波形的控制

Sheng, Shaoxiang; Chen, Li; Schust, Johannes; Lichtenberg, Kurt; Abdo, Mohamad; Huber, Felix; Baumann, Susanne; Loth, Sebastian