Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum

por Summa, Sarinya, Ittiwut, Chupong, Kulsirichawaroj, Pimchanok, Paprad, Tanitnun, Likasitwattanakul, Surachai, Sanmaneechai, Oranee, Boonsimma, Ponghatai, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado 2023

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants

por Chokvithaya, Suphalak, Caengprasath, Natarin, Buasong, Aayalida, Jantasuwan, Supavadee, Santawong, Kanokwan, Leela-adisorn, Netchanok, Tongkobpetch, Siraprapa, Ittiwut, Chupong, Saengow, Vitchayaporn Emarach, Kamolvisit, Wuttichart, Boonsimma, Ponghatai, Bongsebandhu-phubhakdi, Saknan, Shotelersuk, Vorasuk
Publicado 2023