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

The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023

以色列阿尔伯特·爱因斯坦医院关于体质序列变异分类的标准:2023版

Quaio, Caio Robledo D'Angioli Costa; Ceroni, José Ricardo Magliocco; Pereira, Michele Araújo; Teixeira, Anne Caroline Barbosa; Yamada, Renata Yoshiko; Cintra, Vivian Pedigone; Perrone, Eduardo; De França, Marina; Chen, Kelin; Minillo, Renata Moldenhauer; Biondo, Cheysa Arielly; de Mello, Mariana Rezende Bandeira; Moura, Lais Rodrigues; do Nascimento, Amanda Thamires Batista; de Oliveira Pelegrino, Karla; de Lima, Larissa Barbosa; do Amaral Virmond, Luiza; Moreno, Carolina Araujo; Prota, Joana Rosa Marques; de Araujo Espolaor, Jessica Grasiela; Silva, Thiago Yoshinaga Tonholo; Moraes, Gabriel Hideki Izuka; de Oliveira, Gustavo Santos; Moura, Livia Maria Silva; Caraciolo, Marcel Pinheiro; Guedes, Rafael Lucas Muniz; Gretschischkin, Michel Chieregato; Chazanas, Pedro Lui Nigro; Nakamura, Carolina Naomi Izo; de Souza Reis, Rodrigo; Toledo, Carmen Melo; Lage, Fernanda Stussi Duarte; de Almeida, Giovanna Bloise; do Nascimento Júnior, José Bandeira; Cardoso, Milena Andreuzo; de Paula Azevedo, Victor; de Almeida, Tatiana Ferreira; Cervato, Murilo Castro; de Oliveira Filho, Joao Bosco

The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients

巴西遗传性癌症风险综合征的遗传学:对1682名患者的综合分析

de Oliveira, Jarbas Maciel; Zurro, Nuria Bengala; Coelho, Antonio Victor Campos; Caraciolo, Marcel Pinheiro; de Alexandre, Rodrigo Bertollo; Cervato, Murilo Castro; Minillo, Renata Moldenhauer; de Vasconcelos Carvalho Neto, George; Grivicich, Ivana; Oliveira, João Bosco

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

对未受影响个体中非综合征性听力损失的基因组研究:巴西 2097 个基因组队列中致病性和可能致病性变异的频率

Quaio, Caio Robledo D' Angioli Costa; Coelho, Antonio Victor Campos; Moura, Livia Maria Silva; Guedes, Rafael Lucas Muniz; Chen, Kelin; Ceroni, Jose Ricardo Magliocco; Minillo, Renata Moldenhauer; Caraciolo, Marcel Pinheiro; Reis, Rodrigo de Souza; de Azevedo, Bruna Mascaro Cordeiro; Nobrega, Maria Soares; Teixeira, Anne Caroline Barbosa; Martinelli Lima, Matheus; da Mota, Thamara Rayssa; da Matta, Marina Cadena; Colichio, Gabriela Borges Cherulli; Roncalho, Aline Lulho; Ferreira, Ana Flavia Martinho; Campilongo, Gabriela Pereira; Perrone, Eduardo; Virmond, Luiza do Amaral; Moreno, Carolina Araujo; Prota, Joana Rosa Marques; de França, Marina; Cervato, Murilo Castro; de Almeida, Tatiana Ferreira; de Oliveira Filho, Joao Bosco

Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region

对来自巴西东北部某地区聚集性病例的33个巴西家族的CTSK基因进行分子分析,这些家族均患有骨硬化症。

Araujo, Thaís Fenz; Ribeiro, Erlane Marques; Arruda, Anderson Pontes; Moreno, Carolina Araujo; de Medeiros, Paula Frassinetti Vasconcelos; Minillo, Renata Moldenhauer; Melo, Débora Gusmão; Kim, Chong Ae; Doriqui, Maria Juliana Rodovalho; Felix, Têmis Maria; Fock, Rodrigo Ambrosio; Cavalcanti, Denise Pontes

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

巴西两户家庭中,SERPINF1基因的新型缺失导致常染色体隐性遗传性成骨不全症VI型

Minillo, Renata Moldenhauer; Sobreira, Nara; de Faria Soares, Maria de Fatima; Jurgens, Julie; Ling, Hua; Hetrick, Kurt N; Doheny, Kimberly F; Valle, David; Brunoni, Decio; Perez, Ana B Alvarez

Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features

伴有畸形特征的患者存在4q间质缺失和等着丝粒Y染色体

Mancini, T I; Oliveira, M M; Dutra, A R N; Perez, A B A; Minillo, R M; Takeno, S S; Melaragno, M I