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

Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

在基因型阴性的肥厚型心肌病家系中鉴定出难以捉摸的剪接性 MYBPC3 变异

Mario Torrado, Emilia Maneiro, Arsonval Lamounier Junior, Miguel Fernández-Burriel, Sara Sánchez Giralt, Ana Martínez-Carapeto, Laura Cazón, Elisa Santiago, Juan Pablo Ochoa, William J McKenna, Luis Santomé, Lorenzo Monserrat

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

MESD基因的常染色体隐性突变导致成骨不全

Moosa, Shahida; Yamamoto, Guilherme L; Garbes, Lutz; Keupp, Katharina; Beleza-Meireles, Ana; Moreno, Carolina Araujo; Valadares, Eugenia Ribeiro; de Sousa, Sérgio B; Maia, Sofia; Saraiva, Jorge; Honjo, Rachel S; Kim, Chong Ae; Cabral de Menezes, Hamilton; Lausch, Ekkehart; Lorini, Pablo Villavicencio; Lamounier, Arsonval Jr; Carniero, Tulio Canella Bezerra; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco; Semler, Oliver; Beleggia, Filippo; Li, Yun; Yigit, Gökhan; Reintjes, Nadine; Altmüller, Janine; Nürnberg, Peter; Cavalcanti, Denise P; Zabel, Bernhard; Warman, Matthew L; Bertola, Debora R; Wollnik, Bernd; Netzer, Christian

Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice

基因检测在扩张型心肌病中的重要性:临床实践中的应用与挑战

Lamounier Júnior, Arsonval; Ferrari, Filipe; Max, Renato; Ritt, Luiz Eduardo Fonteles; Stein, Ricardo

Genetic Evaluation, Familial Screening and Exercise

基因评估、家族筛查和运动

Stein, Ricardo; Trujillo, Juan Pablo; Silveira, Anderson Donelli da; Lamounier Júnior, Arsonval; Iglesias, Lorenzo Monserrat