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

Variants in CFAP410 cause a range of retinal and skeletal phenotypes

CFAP410基因变异会导致一系列视网膜和骨骼表型。

Schmidt, Ryan E; Pohodich, Amy E; Birch, David; Jones, Kaylie; Lam, Byron L; Jung, Emily H; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C; Heon, Elise; Scholl, Hendrik P N; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I; Zein, Wadih; Brooks, Brian P; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S; Sylla, Mohamed M; Tsang, Stephen H; Alabek, Michelle; Sahel, Jose; Gorin, Michael B; van Genderen, Maria M; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L; Hull, Sarah; Duncan, Jacque L; Hanson, James V M; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A; Yang, Paul; Pennesi, Mark E

Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants

巴西 Cornelia de Lange 综合征伴 NIPBL 变异患者的眼科检查结果

Vilella, Thainá; Nunes, Beatriz Carvalho; Del Valle, Giulia Steuernagel; Pinheiro, Isabel Furquim; Aoi, Hiromi; Mizuguchi, Takeshi; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Kim, Chong Ae; Sallum, Juliana Maria Ferraz; Melaragno, Maria Isabel; Cristovam, Priscila Cardoso

Retinal degeneration in spinocerebellar ataxia type 7: an overview of the current knowledge

脊髓小脑性共济失调7型视网膜变性:当前知识概述

Marianelli, Bruna Ferraço; Rezende Filho, Flávio Moura; Salles, Mariana Vallim; Pedroso, José Luiz; Barsottini, Orlando Graziani P; Sallum, Juliana Maria Ferraz

Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study

磷酸核糖焦磷酸合成酶1 (PRPS1) 相关视网膜变性:一项国际研究

Uner, Ogul E; Elsharawi, Radwa; Reynolds, Margaret; Bacci, Giacomo M; Bargiacchi, Sara; Birch, David G; Chen, Fred K; Jain, Nieraj; Heath Jeffery, Rachael C; Lamey, Tina M; Mustafi, Debarshi; da Palma, Mariana Matioli; Sallum, Juliana Maria Ferraz; Torres Soto, Mariam; Jones, Kaylie; Yang, Paul; Pennesi, Mark E; Everett, Lesley A

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

通过对105个疾病相关基因进行测序,揭示不完全外显率在黄斑病变中的作用

Hitti-Malin, Rebekkah J; Panneman, Daan M; Corradi, Zelia; Boonen, Erica G M; Astuti, Galuh; Dhaenens, Claire-Marie; Stöhr, Heidi; Weber, Bernhard H F; Sharon, Dror; Banin, Eyal; Karali, Marianthi; Banfi, Sandro; Ben-Yosef, Tamar; Glavač, Damjan; Farrar, G Jane; Ayuso, Carmen; Liskova, Petra; Dudakova, Lubica; Vajter, Marie; Ołdak, Monika; Szaflik, Jacek P; Matynia, Anna; Gorin, Michael B; Kämpjärvi, Kati; Bauwens, Miriam; De Baere, Elfride; Hoyng, Carel B; Li, Catherina H Z; Klaver, Caroline C W; Inglehearn, Chris F; Fujinami, Kaoru; Rivolta, Carlo; Allikmets, Rando; Zernant, Jana; Lee, Winston; Podhajcer, Osvaldo L; Fakin, Ana; Sajovic, Jana; AlTalbishi, Alaa; Valeina, Sandra; Taurina, Gita; Vincent, Andrea L; Roberts, Lisa; Ramesar, Raj; Sartor, Giovanna; Luppi, Elena; Downes, Susan M; van den Born, L Ingeborgh; McLaren, Terri L; De Roach, John N; Lamey, Tina M; Thompson, Jennifer A; Chen, Fred K; Tracewska, Anna M; Kamakari, Smaragda; Sallum, Juliana Maria Ferraz; Bolz, Hanno J; Kayserili, Hülya; Roosing, Susanne; Cremers, Frans P M

Anxiety among children a year after the onset of the COVID-19 pandemic: a Brazilian cross-sectional online survey

新冠疫情爆发一年后儿童焦虑状况:一项巴西横断面在线调查

Garcia de Avila, Marla Andréia; de Jesus Amorin, Tainara; Hamamoto Filho, Pedro Tadao; de Almeida, Graziela Maria Ferraz; Olaya-Contreras, Patricia; Berghammer, Malin; Jenholt Nolbris, Margaretha; Nilsson, Stefan

Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies

21世纪巴西的医学遗传学:蓬勃发展的专业及其在公共卫生政策中的应用

Horovitz, Dafne Dain Gandelman; Félix, Têmis Maria; Ferraz, Victor Evangelista de Faria

A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease

大海捞针?靶向癫痫基因检测在识别一种可治疗但进展迅速的代谢性癫痫(CLN2 病)中的作用

Lourenço, Charles Marques; Sallum, Juliana Maria Ferraz; Pereira, Alessandra Marques; Girotto, Paula Natale; Kok, Fernando; Vilela, Daniel Reda Fenga; Barron, Erika; Pessoa, André; Oliveira, Bibiana Mello de

Telenursing in the postoperative period: a scoping review

术后远程护理:范围综述

Gimenez, Viviane Cristina de Albuquerque; Almeida, Graziela Maria Ferraz de; Cyrino, Claudia Maria Silva; Lemos, Cassiane de Santana; Favoretto, Carolina; Avila, Marla Andreia Garcia de

Multimodal imaging in retinitis pigmentosa related to the EYS gene

EYS基因相关视网膜色素变性的多模态成像

Martins, Ester Abigail da Silva; Rodrigues, Gabriela Doná; Ivama, Kendy Junior; Pereira, Mariana Costa; Texeira, Caio Henrique Marques; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz