Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants
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
Published in Scientific reports (27.02.2023)
Published in Scientific reports (27.02.2023)
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Journal Article
Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency
Tantirukdham, Nithiphut, Sahakitrungruang, Taninee, Chaisiwamongkol, Ratikorn, Pongpanich, Monnat, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Buasong, Aayalida, Tongkobpetch, Siraprapa, Yeetong, Patra, Shotelersuk, Vorasuk
Published in The journal of clinical endocrinology and metabolism (16.06.2022)
Published in The journal of clinical endocrinology and metabolism (16.06.2022)
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Journal Article
Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants
Caengprasath, Natarin, Buasong, Aayalida, Ittiwut, Chupong, Khongphatthanayothin, Apichai, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Published in European journal of medical genetics (01.11.2022)
Published in European journal of medical genetics (01.11.2022)
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Journal Article
Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand
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
Published in Clinical genetics (01.07.2021)
Published in Clinical genetics (01.07.2021)
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