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Browsing by Author Arthaporn Khongkraparn

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Issue DateTitleAuthor(s)
11-Sep-2019Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in ThailandLukana Ngiwsara; Duangrurdee Wattanasirichaigoon; Thipwimol Tim-Aroon; Kitiwan Rojnueangnit; Saisuda Noojaroen; Arthaporn Khongkraparn; Phannee Sawangareetrakul; James R. Ketudat-Cairns; Ratana Charoenwattanasatien; Voraratt Champattanachai; Chulaluck Kuptanon; Suthipong Pangkanon; Jisnuson Svasti; Suranaree University of Technology; Chulabhorn Research Institute; Faculty of Medicine, Ramathibodi Hospital, Mahidol University; Faculty of Medicine, Thammasat University; Queen Sirikit National Institute of Child Health; Synchrotron Light Research Institute
1-Jan-2019Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome SequencingKitiwan Rojnueangnit; Boonchu Sirichongkolthong; Ratthapon Wongwandee; Thanitchet Khetkham; Saisuda Noojarern; Arthaporn Khongkraparn; Duangrurdee Wattanasirichaigoon; Thammasat University Hospital; Faculty of Medicine, Ramathibodi Hospital, Mahidol University; Faculty of Medicine, Thammasat University
1-Dec-2020MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritanceSupranee Thongpradit; Natini Jinawath; Asif Javed; Saisuda Noojarern; Arthaporn Khongkraparn; Thipwimol Tim-Aroon; Krisna Lertsukprasert; Bhoom Suktitipat; Laran T. Jensen; Duangrurdee Wattanasirichaigoon; A-Star, Genome Institute of Singapore; Faculty of Medicine, Ramathibodi Hospital, Mahidol University; Mahidol University; Faculty of Medicine, Siriraj Hospital, Mahidol University; The University of Hong Kong