Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review

بواسطة Tanu Tangsricharoen, Rungrote Natesirinilkul, Arunee Phusua, Kanda Fanhchaksai, Chupong Ittiwut, Wanna Chetruengchai, Monthana Juntharaniyom, Pimlak Charoenkwan, Vip Viprakasit, Chureerat Phokaew, Vorasuk Shotelersuk
منشور في 2022

Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand

بواسطة Wuttichart Kamolvisit, Prasit Phowthongkum, Ponghatai Boonsimma, Chulaluck Kuptanon, Kitiwan Rojnueangnit, Duangrurdee Wattanasirichaigoon, Mongkol Chanvanichtrakool, Chutima Phuaksaman, Pattara Wiromrat, Chalurmpon Srichomthong, Chupong Ittiwut, Chureerat Phokaew, Rungnapa Ittiwut, Adjima Assawapitaksakul, Wanna Chetruengchai, Aayalida Buasong, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2022

The Thai reference exome (T-REx) variant database

بواسطة Vorasuk Shotelersuk, Duangdao Wichadakul, Chumpol Ngamphiw, Chalurmpon Srichomthong, Chureerat Phokaew, Alisa Wilantho, Sujiraporn Pakchuen, Vorthunju Nakhonsri, Philip James Shaw, Rujipat Wasitthankasem, Jittima Piriyapongsa, Pongsakorn Wangkumhang, Adjima Assawapitaksakul, Wanna Chetruengchai, Keswadee Lapphra, Athiphat Khuninthong, Pattarapong Makarawate, Kanya Suphapeetiporn, Surakameth Mahasirimongkol, Nusara Satproedprai, Thantrira Porntaveetus, Prapaporn Pisitkun, Verayuth Praphanphoj, Piranit Kantaputra, Wichittra Tassaneeyakul, Sissades Tongsima
منشور في 2022