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

c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report

c.7156C > T p.(Gln2386*)变异导致USP9X基因功能丧失，引起女性特有的X连锁综合征性智力障碍：病例报告

期刊:Journal of Medical Case Reports
影响因子:0.8
doi:10.1186/s13256-025-05456-z
da Silva Campos, Talyta Alves; Bernardes, Alex Honda; Pinto, Irene Plaza; da Silva Teixeira, Hiane Aparecida; da Silva, Juliana Ferreira; do Prado Santos, Victor Cortázio; Zatarin, Raffael; da Cruz, Aparecido Divino
USP9X
发表日期：2025
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Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report

鲁宾斯坦-泰比综合征1型患者的临床和遗传管理：病例报告

期刊:Genes
影响因子:
doi:10.3390/genes16080910
Santos, Victor; Souza, Pedro Paulo Chaves de; Campos, Talyta; Winterly, Hiane; Vieira, Thaís; Gigonzac, Marc; Honda, Alex; Pinto, Irene; Zatarin, Raffael; Azevedo, Fernando; Nascimento, Anna; da Silva, Cláudio; da Cruz, Aparecido
发表日期：2025
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Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the TGFB1 Gene

卡穆拉蒂-恩格尔曼病表型变异：一个携带TGFB1基因c.653G>A致病变异的家族病例报告

期刊:Genes
影响因子:2.8
doi:10.3390/genes15111354
Campos, Talyta; Uchoa, Elza; Santos, Victor; Zatarin, Raffael; Benício, Rosenelle; Gomes, Clayson; da Cruz, Aparecido
发表日期：2024
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c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome

突触结合蛋白1 (SYT1) 基因中的c.1103T>C (p.Ile368Th) 新生突变具有致病性，导致一种极其罕见的神经发育障碍：贝克-戈登综合征。

期刊:International Medical Case Reports Journal
影响因子:0.6
doi:10.2147/IMCRJ.S448555
Porto, Milena Barbosa; Castro, Geovanna da Mata E; Pereira, Samara Socorro Silva; Uchoa, Elza Maria Gonçalves Santos; Zatarin, Raffael; Minasi, Lysa Bernardes; da Cruz, Aparecido D
发育与干细胞
神经科学
发表日期：2024
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