Compound heterozygote of point mutation and chromosomal microdeletion involving otud6b coinciding with zmiz1 variant in syndromic intellectual disability

بواسطة Tim Phetthong, Arthaporn Khongkrapan, Natini Jinawath, Go Hun Seo, Duangrurdee Wattanasirichaigoon
منشور في 2022

Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand

بواسطة Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkrapan, Preamrudee Poomthavorn, Duangrurdee Wattanasirichaigoon
منشور في 2020

Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients

بواسطة Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Chulaluck Kuptanon, Khunton Wichajarn, Achara Sathienkijkanchai, Kanya Suphapeetiporn, Pimlak Charoenkwan, Adisak Tantiworawit, Naruwan Noentong, Duangrurdee Wattanasirichaigoon
منشور في 2022