Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study
比较一线全外显子组测序与多步骤传统方法在儿科门诊诊断中的应用：一项意大利前瞻性研究
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.5
doi:10.1002/mgg3.2316.
Erica Rosina ,Lidia Pezzani ,Erika Apuril ,Laura Pezzoli ,Daniela Marchetti ,Matteo Bellini ,Camilla Lucca ,Camilla Meossi ,Marta Massimello ,Milena Mariani ,Agnese Scatigno ,Elisa Cattaneo ,Lorenzo Colombo ,Silvia Maitz ,Anna Cereda ,Donatella Milani ,Luigina Spaccini ,Maria Francesca Bedeschi ,Angelo Selicorni ,Maria Iascone
