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

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Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency von Tantirukdham, Nithiphut, Sahakitrungruang, Taninee, Chaisiwamongkol, Ratikorn, Pongpanich, Monnat, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Buasong, Aayalida, Tongkobpetch, Siraprapa, Yeetong, Patra, Shotelersuk, Vorasuk

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Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants von Caengprasath, Natarin, Buasong, Aayalida, Ittiwut, Chupong, Khongphatthanayothin, Apichai, Porntaveetus, Thantrira, Shotelersuk, Vorasuk

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Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand von Kamolvisit, Wuttichart, Phowthongkum, Prasit, Boonsimma, Ponghatai, Kuptanon, Chulaluck, Rojnueangnit, Kitiwan, Wattanasirichaigoon, Duangrurdee, Chanvanichtrakool, Mongkol, Phuaksaman, Chutima, Wiromrat, Pattara, Srichomthong, Chalurmpon, Ittiwut, Chupong, Phokaew, Chureerat, Ittiwut, Rungnapa, Assawapitaksakul, Adjima, Chetruengchai, Wanna, Buasong, Aayalida, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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