WES-based screening of 7,000 newborns: A pilot study in Russia
俄罗斯一项针对7000名新生儿的基于全外显子组测序的筛查试点研究
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2024.100334
Shubina, Jekaterina; Tolmacheva, Ekaterina; Maslennikov, Dmitry; Kochetkova, Taisiya; Mukosey, Irina; Sadelov, Igor; Goltsov, Andrey; Barkov, Ilya; Ekimov, Aleksey; Rogacheva, Margarita; Stupko, Olga; Pavlova, Nadezhda; Kuznetsova, Maria; Dokshukina, Alina; Vasiliev, Grigory; Bolshakova, Anna; Kovalskaia, Valeriia; Korovko, Anastasia; Pomerantseva, Ekaterina; Tsabai, Polina; Buyanovskaya, Olga; Zaretskaya, Nadezhda; Karetnikova, Natalia; Grebenshchikova, Elena; Degtyareva, Anna; Bokerija, Ekaterina; Kholin, Alexey; Rebrikov, Denis; Degtyarev, Dmitry; Trofimov, Dmitriy; Sukhih, Gennady