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

Analysis of genomic ancestry and characterization of a new variant in MPS type VII

MPS VII 型基因组祖先分析及新变异的鉴定

da Costa, Andreza Juliana Moreira; de Souza, Isabel Cristina Neves; Feio, Raimunda Helena; Viana, Laurent Ketlen Leão; Cisz, Mislene; Rafaelli, Célio Luiz; Trapp, Franciele Barbosa; Burin, Maira Graeff; Michelin-Tirelli, Kristiane; Brusius-Facchin, Ana Carolina; Netto, Alice Brinckmann Oliveira; Khayat, André Salim; Dos Santos, Ney Pereira Carneiro; Giugliani, Roberto; Santana-da-Silva, Luiz Carlos

Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador

厄瓜多尔粘多糖贮积症 IIIB 型聚集性病例的全面特征分析

Castro Moreira, María Lucía; Montenegro, Yorran Hardman Araújo; Salatino-Oliveira, Angélica; Montano, Héctor Quintero; Bareiro, Rodolfo F Niz; Santos-Lopes, Simone Silva Dos; Silva, Thiago Ramos da; Azevedo, Lucas Kelvy Sales; Silva, Karyme Beatrice Lourenço da; Moreira, Affonso Weslley de Almeida; Araujo, Suzany Silva; Kubaski, Francyne; Trapp, Franciele Barbosa; Brusius-Facchin, Ana Carolina; Sebastião, Fernanda Medeiros; Michelin-Tirelli, Kristiane; Baldo, Guilherme; Giugliani, Roberto; Palhares, Durval

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network

揭示巴西粘多糖贮积症 IIIC 型:通过巴西粘多糖贮积症网络识别的巴西患者的诊断历程和临床特征

Montenegro, Yorran Hardman Araújo; Alves, Maria Fernanda Antero; Santos-Lopes, Simone Silva Dos; Souza, Carolina Fischinger Moura de; Poswar, Fabiano de Oliveira; Brusius-Facchin, Ana Carolina; Bender-Pasetto, Fernanda; Michelin-Tirelli, Kristiane; Sebastião, Fernanda Medeiros; Trapp, Franciele Barbosa; Ribeiro, Erlane Marques; Medeiros, Paula Frassinetti Vasconcelos de; Kim, Chong Ae; Embiraçu, Emilia Katiane; Riegel-Giugliani, Mariluce; Baldo, Guilherme; Giugliani, Roberto

Genotype-phenotype correlation of neurodevelopmental disorders in patients with dystrophinopathies

肌营养不良症患者神经发育障碍的基因型-表型相关性

Soares, Fabrício M; Rosa, Bruna F; Giordani, Gabriela M; Rocha, Daniele L; Brusius-Facchin, Ana Carolina; Becker, Michele M; Saute, Jonas Alex M

Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases

巴西遗传代谢病诊断网络:LSD巴西网络十年活动报告,该网络致力于帮助巴西和拉丁美洲识别溶酶体贮积症患者

Trapp, Franciele Barbosa; Riegel, Mariluce; Michelin-Tirelli, Kristiane; da Silva, Layzon Antonio Lemos; Iop, Gabrielle Dineck; Bender-Pasetto, Fernanda; Sebastião, Fernanda Medeiros; da Silva Moraes, Inamara; Lopes, Franciele Fátima; Dos Santos, Osmar Rachor Toledo; da Rosa Pereira, Fernanda; Silva, Laysla Pedelhes; Luiz, Andrius Anselmi; da Silva, Cleiton Amaral; Lucas, Karen Daniela Piccoli; Netto, Alice Brinckmann Oliveira; Brasil, Carolina Serpa; Leistner, Sandra; Brusius-Facchin, Ana Carolina; Deon, Marion; Civallero, Gabriel Eduardo Santiago; Giugliani, Roberto

The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)

地理和社会人口因素在粘多糖贮积症特征描述中的重要性:来自巴西东北部塞阿拉州的一系列病例

Cardoso-Dos-Santos, Augusto César; Mariath, Luiza Monteavaro; Trapp, Franciele; Facchin, Ana Carolina Brusius; Leistner, Sandra; Kubaski, Francyne; Giugliani, Roberto; Schuler-Faccini, Lavinia; Ribeiro, Erlane Marques

Gene-environment interactions and preterm birth predictors: A Bayesian network approach

基因-环境相互作用与早产预测因子:贝叶斯网络方法

Elias, Dario E; Santos, Maria R; Campaña, Hebe; Poletta, Fernando A; Heisecke, Silvina L; Gili, Juan A; Ratowiecki, Julia; Cosentino, Viviana R; Uranga, Rocio; Málaga, Diana Rojas; Oliveira Netto, Alice Brinckmann; Brusius-Facchin, Ana Carolina; Saleme, César; Rittler, Mónica; Krupitzki, Hugo B; Camelo, Jorge S Lopez; Gimenez, Lucas G

Ageing-associated changes in transcriptional elongation influence longevity

与衰老相关的转录延长变化影响寿命

Cédric Debès #, Antonios Papadakis #, Sebastian Grönke #, Özlem Karalay #, Luke S Tain, Athanasia Mizi, Shuhei Nakamura, Oliver Hahn, Carina Weigelt, Natasa Josipovic, Anne Zirkel, Isabell Brusius, Konstantinos Sofiadis, Mantha Lamprousi, Yu-Xuan Lu, Wenming Huang, Reza Esmaillie, Torsten Kubacki, M

Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia

磷脂酰肌醇蛋白聚糖 1 和假定的共济失调疾病修饰变体的差异相互作用组的蛋白质组学研究

Nur Cengiz Winter, Mert Karakaya, Peter Mosen, Isabell Brusius, Banu Anlar, Goknur Haliloglu, Dominic Winter, Brunhilde Wirth

Pilot study of newborn screening for six lysosomal diseases in Brazil

巴西新生儿六种溶酶体疾病筛查试点研究

Kubaski, Francyne; Sousa, Ines; Amorim, Tatiana; Pereira, Danilo; Silva, Camilo; Chaves, Vitor; Brusius-Facchin, Ana Carolina; Netto, Alice B O; Soares, Juliano; Vairo, Filippo; Poletto, Edina; Trometer, Joe; Souza, Alexandre; Ranieri, Enzo; Polo, Giulia; Hong, Xinying; Herbst, Zackary M; Burlina, Alberto; Gelb, Michael H; Giugliani, Roberto