Inter-population linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA locus on human chromosome 4

by Chupong Ittiwut
Published 2013

Association between MTHFR polymorphisms and frontoethmoidal encephalomeningocele and cleft lip with or without cleft palate

by Chupong Ittiwut
Published 2013

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

by Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

by Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome

by Prapai Dejkhamron, Chupong Ittiwut, Hataitip Tangngam, Kanokkarn Sunkonkit, Rungrote Natesirinilkul, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2019

Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation

by Chitsanupong Ratarat, Chupong Ittiwut, Rungrote Natesirinilkul, Lalita Sathitsamitpong, Kanda Fanhchaksai, Pimlak Charoenkwan, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2019

Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations

by Nalinee Pattrakornkul, Chupong Ittiwut, Ponghatai Boonsimma, Kanokwan Boonyapisit, Chaiyos Khongkhatithum, Oranee Sanmaneechai, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2020

Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development

by Chupong Ittiwut, Jaturong Pratuangdejkul, Vichit Supornsilchai, Sasipa Muensri, Yodporn Hiranras, Taninee Sahakitrungruang, Suttipong Watcharasindhu, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia

by Chupong Ittiwut, Rungrote Natesirinilkul, Fuanglada Tongprasert, Lalita Sathitsamitphong, Chane Choed-amphai, Kanda Fanhchaksai, Pimlak Charoenkwan, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions

by Chupong Ittiwut, Wiparat Manuyakorn, Siraprapa Tongkobpetch, Suwat Benjaponpitak, Megan R. Fisher, Joshua D. Milner, Jonathan J. Lyons, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2020

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

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

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

by 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
Published 2022