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

Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture

作者更正：人类纤毛病蛋白RSG1将CPLANE复合物与过渡区结构连接起来。

期刊:Nature Communications
影响因子:
doi:10.1038/s41467-026-69058-z
Vazquez, Neftalí; Lee, Chanjae; Valenzuela, Irene; Phan, Thao P; Derderian, Camille; Chávez, Marcelo; Mooney, Nancie A; Demeter, Janos; Aziz-Zanjani, Mohammad Ovais; Cusco, Ivon; Codina, Marta; Martínez-Gil, Núria; Valverde, Diana; Solarat, Carlos; Bruel, Ange-Line; Thauvin-Robinet, Cristel; Steichen, Elisabeth; Filges, Isabel; Joset, Pascal; De Geyter, Julie; Vaidyanathan, Krishna; Gardner, Tynan P; Toriyama, Michinori; Marcotte, Edward M; Drew, Kevin; Roberson, Elle C; Jackson, Peter K; Reiter, Jeremy F; Tizzano, Eduardo F; Wallingford, John B
发表日期：2026
文献求助 收藏

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

人类纤毛病蛋白 RSG1 将 CPLANE 复合物与过渡区结构连接起来

期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-025-61005-8
Vazquez Neftalí, Lee Chanjae, Valenzuela Irene, Phan Thao P, Derderian Camille, Chávez Marcelo, Mooney Nancie A, Demeter Janos, Aziz-Zanjani Mohammad Ovais, Cusco Ivon, Codina Marta, Martínez-Gil Núria, Valverde Diana, Solarat Carlos, Buel Ange-Line, Thauvin-Robinet Cristel, Steichen Elisabeth, Filges Isabel, Joset Pascal, De Geyter Julie, Vaidyanathan Krishna, Gardner Tynan P, Toriyama Michinori, Marcotte Edward M, Drew Kevin, Roberson Elle C, Jackson Peter K, Reiter Jeremy F, Tizzano Eduardo F, Wallingford John B
其它
Human
发表日期：2025
文献求助 收藏

Pituitary Stalk Interruption Syndrome – clinical Presentation and Management of a Potentially Life-threatening Disease in Newborns

垂体柄中断综合征——新生儿潜在危及生命的疾病的临床表现和治疗

期刊:Journal of Clinical Research in Pediatric Endocrinology
影响因子:1.5
doi:10.4274/jcrpe.galenos.2023.2023-1-23
Winkler, Ira; Steichen, Elisabeth; Kapelari, Klaus; Wöckinger, Peter; Neubauer, Vera; Kiechl-Kohlendorfer, Ursula; Griesmaier, Elke
免疫/内分泌
发表日期：2025
文献求助 收藏

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture

人类纤毛病蛋白RSG1将CPLANE复合物与过渡区结构连接起来。

期刊:
影响因子:
doi:10.1101/2024.09.25.614984
Vazquez, Neftalí; Lee, Chanjae; Valenzuela, Irene; Phan, Thao P; Derderian, Camille; Chávez, Marcelo; Mooney, Nancie A; Demeter, Janos; Aziz-Zanjani, Mohammad Ovais; Cusco, Ivon; Codina, Marta; Martínez-Gil, Núria; Valverde, Diana; Solarat, Carlos; Buel, Ange-Line; Thauvin-Robinet, Cristel; Steichen, Elisabeth; Filges, Isabel; Joset, Pascal; De Geyter, Julie; Vaidyanathan, Krishna; Gardner, Tynan; Toriyama, Michinori; Marcotte, Edward M; Roberson, Elle C; Jackson, Peter K; Reiter, Jeremy F; Tizzano, Eduardo F; Wallingford, John B
发表日期：2024
文献求助 收藏

ALG8-CDG: novel patients and review of the literature

ALG8-CDG：新病例及文献综述

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-015-0289-7
Höck, Michaela; Wegleiter, Karina; Ralser, Elisabeth; Kiechl-Kohlendorfer, Ursula; Scholl-Bürgi, Sabine; Fauth, Christine; Steichen, Elisabeth; Pichler, Karin; Lefeber, Dirk J; Matthjis, Gert; Keldermans, Liesbeth; Maurer, Kathrin; Zschocke, Johannes; Karall, Daniela
发表日期：2015
文献求助 收藏

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome

利用基因组近交系数估计值进行罕见隐性性状的纯合性作图：以泰比-林德综合征为例

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/504640
Leutenegger, Anne-Louise; Labalme, Audrey; Genin, Emmanuelle; Toutain, Annick; Steichen, Elisabeth; Clerget-Darpoux, Francoise; Edery, Patrick
发表日期：2006
文献求助 收藏