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

Inside the Microreactor: In Situ Real-Time Observation of Vapor-Liquid-Solid Growth of Monolayer TMDCs

微反应器内部:单层过渡金属二硫化物气-液-固生长过程的原位实时观察

Suzuki, Hiroo; Senda, Yutaro; Hisama, Kaoru; Aso, Shuhei; Takahashi, Yuta; Fujii, Shun; Hayashi, Yasuhiko

ACMG Medical Directors' Special Interest Group survey: Current challenges for medical genetics clinics

ACMG医学主任特别兴趣小组调查:医学遗传诊所目前面临的挑战

Dulchavsky, Mark; Keegan, Catherine E; Robin, Nathaniel H; Haldeman-Englert, Chad; Dhar, Shweta U; Hisama, Fuki M

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

同步长读长基因组、甲基化组、表观基因组和转录组分析揭示了孟德尔遗传病的成因

Vollger Mitchell R, Korlach Jonas, Eldred Kiara C, Swanson Elliott, Underwood Jason G, Bohaczuk Stephanie C, Mao Yizi, Cheng Yong-Han H, Ranchalis Jane, Blue Elizabeth E, Schwarze Ulrike, Munson Katherine M, Saunders Christopher T, Wenger Aaron M, Allworth Aimee, Chanprasert Sirisak, Duerden Brittney L, Glass Ian, Horike-Pyne Martha, Kim Michelle, Leppig Kathleen A, McLaughlin Ian J, Ogawa Jessica, Rosenthal Elisabeth A, Sheppeard Sam, Sherman Stephanie M, Strohbehn Samuel, Yuen Amy L, Stacey Andrew W, Reh Thomas A, Byers Peter H, Bamshad Michael J, Hisama Fuki M, Jarvik Gail P, Sancak Yasemin, Dipple Katrina M, Stergachis Andrew B

Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders

扩大与SOX11相关疾病相关的内分泌异常谱

Sun, Bang; Stamou, Maria I; Stockman, Sara L; Campbell, Mark B; Plummer, Lacey; Salnikov, Kathryn B; Kotan, Leman Damla; Topaloglu, A Kemal; Hisama, Fuki M; Davis, Erica E; Seminara, Stephanie B; Balasubramanian, Ravikumar

Surface steric effect in heterogeneous catalysis as the origin of the high activity induced by strong metal-support interactions

非均相催化中的表面空间位阻效应是强金属-载体相互作用诱导高活性的根源。

Valadez Huerta, Gerardo; Hisama, Kaoru; Sato, Katsutoshi; Nagaoka, Katsutoshi; Koyama, Michihisa

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

远程医疗在评估未确诊罕见病患者方面有效:一项未确诊疾病网络研究

Tan, Queenie K-G; McConkie-Rosell, Allyn; Brown, Rachel M; Spillmann, Rebecca C; Schoch, Kelly; Chanprasert, Sirisak; Acosta, Maria T; Toro, Camilo; Rosenfeld, Jill A; Orengo, James P; Scott, Daryl A; Granadillo, Jorge L; Sisco, Kathleen; Wegner, Daniel J; Tekin, Mustafa; Bivona, Stephanie; Peart, LéShon; Rodan, Lance; Bonner, Devon; Wheeler, Matthew T; Bernstein, Jonathan A; Ruzhnikov, Maura; Adams, David R; Hisama, Fuki M; Shashi, Vandana

Molecular Dynamics of Catalyst-Free Edge Elongation of Boron Nitride Nanotubes Coaxially Grown on Single-Walled Carbon Nanotubes

在单壁碳纳米管上同轴生长的氮化硼纳米管的无催化剂边缘延伸的分子动力学

Hisama, Kaoru; Bets, Ksenia V; Gupta, Nitant; Yoshikawa, Ryo; Zheng, Yongjia; Wang, Shuhui; Liu, Ming; Xiang, Rong; Otsuka, Keigo; Chiashi, Shohei; Yakobson, Boris I; Maruyama, Shigeo

Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome

Caspase 5 耗竭与过度炎症反应和早衰综合征有关

Fuki M Hisama #, Renuka Kandhaya Pillai #, Julia Sidorova, Karynne Patterson, Carolina Gokingco, Michal Yacobi-Bach, Junko Oshima

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

UQCRFS1相关线粒体复合物III缺乏症和隐性GJA8相关白内障的双重诊断

Blue, Elizabeth E; Huang, Samuel J; Khan, Alyna; Golden-Grant, Katie; Boyd, Brenna; Rosenthal, Elisabeth A; Gillentine, Madelyn A; Fleming, Leah R; Adams, David R; Wolfe, Lynne; Allworth, Aimee; Bamshad, Michael J; Caruana, Nikeisha J; Chanprasert, Sirisak; Chen, Jingheng; Dargie, Nitsuh; Doherty, Daniel; Friederich, Marisa W; Hisama, Fuki M; Horike-Pyne, Martha; Lee, Jessica C; Donovan, Tonia E; Hock, Daniella H; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Ranchalis, Jane; Raskind, Wendy H; Michel, Cole R; Reisdorph, Richard; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Stroud, David A; Sybert, Virginia P; Wener, Mark H; Stergachis, Andrew B; Lam, Christina T; Jarvik, Gail P; Dipple, Katrina M; Van Hove, Johan L K; Glass, Ian A

Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases

家族共分离现象以及长读长测序在重新分类遗传性视网膜疾病中意义未明变异体方面的新兴作用

Gupta, Pankhuri; Nakamichi, Kenji; Bonnell, Alyssa C; Yanagihara, Ryan; Radulovich, Nick; Hisama, Fuki M; Chao, Jennifer R; Mustafi, Debarshi