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

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II

全外显子组和转录组测序扩展了 Majewski 骨发育不良原始侏儒症 II 型的基因型

Flaviana Marzano, Matteo Chiara, Arianna Consiglio, Gabriele D'Amato, Mattia Gentile, Valentina Mirabelli, Maria Piane, Camilla Savio, Marco Fabiani, Domenica D'Elia, Elisabetta Sbisà, Gioacchino Scarano, Fortunato Lonardo, Apollonia Tullo, Graziano Pesole, Maria Felicia Faienza

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

采用新一代测序方法鉴定意大利队列中早发型和晚发型肥厚型心肌病患者的基因突变

Rubattu Speranza, Bozzao Cristina, Pennacchini Ermelinda, Pagannone Erika, Musumeci Beatrice Maria, Piane Maria, Germani Aldo, Savio Camilla, Francia Pietro, Volpe Massimo, Autore Camillo, Chessa Luciana

p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes

p53 中心体定位诊断共济失调毛细血管扩张症纯合子和杂合子

Andrea Prodosmo, Andrea De Amicis, Cecilia Nisticò, Mario Gabriele, Giuliana Di Rocco, Laura Monteonofrio, Maria Piane, Enrico Cundari, Luciana Chessa, Silvia Soddu