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

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants

由SLC12A6变异引起的显性夏科-马里-图斯病谱

Record, Christopher J; Grider, Tiffany; Rebelo, Adriana P; Laurini, Christian; Skorupinska, Mariola; Danzi, Matt C; Poh, Roy; Tomaselli, Pedro J; Frezatti, Rodrigo S; Dominik, Natalia; Grosz, Bianca; Ellis, Melina; Kumar, Kishore R; Harms, Matthew B; Weihl, Conrad C; Marques Júnior, Wilson; Claeys, Kristl G; Blake, Julian C; Holt, James Kl; Weber, Astrid; Jacobson, Ryan; Dineen, Richard T; Falzone, Yuri M; Previtali, Stefano C; Menezes, Manoj P; Vucic, Steve; Laura, Matilde; Kennerson, Marina L; Shy, Michael E; Zuchner, Stephan; Reilly, Mary M

Evaluating the face validity of early eats: A consumer-focused educational website to enhance practical skills in complementary feeding and early allergen introduction

评估“早期进食”的表面效度:一个以消费者为中心的教育网站,旨在提升辅食添加和早期引入过敏原方面的实用技能。

Shen, Wan; Wheeler, Ashley; Record, Cecilia

The role of endoscope-assisted septectomy and membranectomy for complex chronic subdural hematomas: safety, efficacy, technical feasibility. Patient series

内镜辅助下隔膜切除术和膜切除术治疗复杂性慢性硬膜下血肿的作用:安全性、有效性和技术可行性。病例系列研究

Khaleghi, Mehdi; Shahid, Adnan Hussain; Elkadi, Osama; Suggala, Sudhir; Dyes, Garrett; Barnett, Asa Record; Butler, Danner; Hummel, Ursula Noelle; Thakur, Jai Deep

Intraspecific and environmental variation mediate seed finding effectiveness among scatter-hoarding small mammals

种内变异和环境变异会影响散播种子的小型哺乳动物寻找种子的效率。

Merz, Margaret R; Record, Sydne; Mortelliti, Alessio

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

ARHGAP19基因的双等位基因变异会导致进行性遗传性运动为主的神经病。

Dominik, Natalia; Efthymiou, Stephanie; Record, Christopher J; Miao, Xinyu; Lin, Renee Q; Parmar, Jevin M; Scardamaglia, Annarita; Maroofian, Reza; Lowe, Simon A; Aughey, Gabriel N; Wilson, Abigail D; Curro, Riccardo; Schnekenberg, Ricardo P; Alavi, Shahryar; Leclaire, Leif; He, Yi; Zhelcheska, Kristina; Bellaïche, Yohanns; Gaugué, Isabelle; Skorupinska, Mariola; Van de Vondel, Liedewei; Da'as, Sahar I; Turchetti, Valentina; Güngör, Serdal; Monahan, Gavin V; Ghayoor Karimiani, Ehsan; Jamshidi, Yalda; Lamont, Phillipa J; Armirola-Ricaurte, Camila; Topaloglu, Haluk; Jordanova, Albena; Zaman, Mashaya; Banu, Selina H; Marques, Wilson; Tomaselli, Pedro J; Aynekin, Busra; Cansu, Ali; Per, Huseyin; Güleç, Ayten; Alvi, Javeria Raza; Sultan, Tipu; Khan, Arif; Zifarelli, Giovanni; Ibrahim, Shahnaz; Mancini, Grazia M S; Motazacker, M M; Brusse, Esther; Lupo, Vincenzo; Sevilla, Teresa; Başak, A Nazli; Tekgul, Seyma; Palvadeau, Robin J; Baets, Jonathan; Parman, Yesim; Çakar, Arman; Horvath, Rita; Haack, Tobias B; Stahl, Jan-Hendrik; Grundmann-Hauser, Kathrin; Park, Joohyun; Zuchner, Stephan; Laing, Nigel G; Wilson, Lindsay A; Rossor, Alexander M; Polke, James; Figueiredo, Fernanda Barbosa; Pessoa, André; Kok, Fernando; Coimbra-Neto, Antônio Rodrigues; Franca, Marcondes C Jr; Ravenscroft, Gianina; Hamed, Sherifa A; Chung, Wendy K; Pittman, Alan M; Osborn, Daniel P; Hanna, Michael; Cortese, Andrea; Reilly, Mary M; Jepson, James Ec; Lamarche-Vane, Nathalie; Houlden, Henry

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

ITPR3 中的一种复发性错义变异会导致脱髓鞘性夏科-马里-图斯病,严重程度不一

Beijer Danique, Dohrn Maike F, Rebelo Adriana, Danzi Matt C, Grosz Bianca Rose, Ellis Melina, Kumar Kishore R, Vucic Steve, Vais Horia, Weissenrieder Jillian S, Lunko Olesia, Paudel Usha, Simpson Leah C, Camarena Vladimir, Raposo Jacquelyn, Saporta Mario, Arcia Yeisha, Xu Isaac, Feely Shawna, Record Christopher J, Blake Julian, Reilly Mary M, Scherer Steven S, Kennerson Marina, Lee Yi-Chung, Foskett J Kevin, Shy Michael E, Zuchner Stephan

Harmful Algae Forecasting through an Ocean Data Justice Lens

通过海洋数据正义视角预测有害藻类

Record, Nicholas R; Tupper, Benjamin; Douyon, Kenneth; Drakopulos, Lauren; Vera, Lourdes; Evanilla, Johnathan

Collective Science to Inform Global Ocean Protections

集体科学为全球海洋保护提供信息

Oestreich, William K; Czapanskiy, Max F; Katija, Kakani; Record, Nicholas R; Chapman, Melissa S

Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype

PIGG基因隐性变异导致运动神经病,伴有可变传导阻滞、儿童震颤和热性惊厥:扩展表型

Record, Christopher J; O'Connor, Antoinette; Verbeek, Nienke E; van Rheenen, Wouter; Zamba Papanicolaou, Eleni; Peric, Stojan; Ligthart, Peter C; Skorupinska, Mariola; van Binsbergen, Ellen; Campeau, Philippe M; Ivanovic, Vukan; Hennigan, Brian; McHugh, John C; Blake, Julian C; Murakami, Yoshiko; Laura, Matilde; Murphy, Sinéad M; Reilly, Mary M

Microbiome data management in action workshop: Atlanta, GA, USA, June 12-13, 2024

微生物组数据管理实践研讨会:美国佐治亚州亚特兰大,2024年6月12-13日

Kelliher, Julia M; Aljumaah, Mashael; Bordenstein, Sarah R; Brister, J Rodney; Chain, Patrick S G; Dundore-Arias, Jose Pablo; Emerson, Joanne B; Fernandes, Vanessa Moreira C; Flores, Roberto; Gonzalez, Antonio; Hansen, Zoe A; Hatcher, Eneida L; Jackson, Scott A; Kellogg, Christina A; Madupu, Ramana; Miller, Cassandra Maria Luz; Mirzayi, Chloe; Moustafa, Ahmed M; Mungall, Christopher; Oliver, Aaron; Pariente, Nonia; Pett-Ridge, Jennifer; Record, Sydne; Reji, Linta; Reysenbach, Anna-Louise; Rich, Virginia I; Richardson, Lorna; Schriml, Lynn M; Shabman, Reed S; Sierra, Maria A; Sullivan, Matthew B; Sundaramurthy, Punithavathi; Thibault, Katherine M; Thompson, Luke R; Tighe, Scott; Vereen, Ethell; Eloe-Fadrosh, Emiley A