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Browsing by Author Kitiwan Rojnueangnit

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Showing results 1 to 5 of 5
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-Sep-2019Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defectsKitiwan Rojnueangnit; Chariyawan Charalsawadi; Weerin Thammachote; Ariya Pradabmuksiri; Thipwimol Tim-Aroon; Antonio Novelli; Sara Loddo; Silvana Briuglia; Cutrupi M. Concetta; Duangrurdee Wattanasirichaigoon; Natini Jinawath; IRCCS Ospedale Pediatrico Bambino Gesù; Faculty of Medicine, Ramathibodi Hospital, Mahidol University; Faculty of Medicine, Thammasat University; Mahidol University; Università degli Studi di Messina; Prince of Songkla University; Surat Thani Hospital
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-Jan-2020LACHT syndrome (Mardini–Nyhan association) with tracheal stenosis in a Thai newbornKitiwan Rojnueangnit; Sudatip Kositamongkol; Wanida Paoin; Araya Satdhabudha; Onsuthi Pharadornuwat; Ratthapon Wongwandee; Weerin Thammachote; Natini Jinawath; Faculty of Medicine, Ramathibodi Hospital, Mahidol University; Mahidol University; Thammasat University
1-Jun-2017Molecular analysis of the novel IDS allele in a thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decayLukana Ngiwsara; Kitiwan Rojnueangnit; Duangrurdee Wattanasirichaigoon; Thipwimol Tim-Aroon; Phannee Sawangareetrakul; Voraratt Champattanachai; James R. Ketudat-Cairns; Jisnuson Svasti; Chulaborn Research Institute; Faculty of Medicine, Thammasat University; Mahidol University; Suranaree University of Technology