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Browsing by Author Thipwimol Tim-Aroon

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Issue DateTitleAuthor(s)
1-Mar-20171q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndromeThipwimol Tim-Aroon; Natini Jinawath; Weerin Thammachote; Praweena Sinpitak; Anchalee Limrungsikul; Chaiyos Khongkhatithum; Duangrurdee Wattanasirichaigoon; Mahidol University; DNA Center
1-Aug-2018Clinicoradiological and genetic analyses of three Thai families with hereditary hemorrhagic telangiectasia in Ramathibodi hospitalSirintara Pongpech Singhara Na Ayudhaya; Thipwimol Tim-Aroon; Chaiyos Khongkhatithum; Duangrurdee Wattanasirichaigoon; Ekachat Chanthanaphak; Chai Kobkitsuksakul; Kittiphop Somboonnithiphol; Faculty of Medicine, Khon Kaen University; Faculty of Medicine, Ramathibodi Hospital, Mahidol 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
1-May-2018Newborn with asymmetric crying faceKiengkwan Amphaiphan; Thipwimol Tim-Aroon; Chayatat Ruangkit; Faculty of Medicine, Ramathibodi Hospital, Mahidol University
1-May-2018p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cellsLukana Ngiwsara; James R. Ketudat-Cairns; Phannee Sawangareetrakul; Ratana Charoenwattanasatien; Voraratt Champattanachai; Chulaluck Kuptanon; Suthipong Pangkanon; Thipwimol Tim-Aroon; Duangrurdee Wattanasirichaigoon; Jisnuson Svasti; Suranaree University of Technology; Chulabhorn Research Institute; Faculty of Medicine, Ramathibodi Hospital, Mahidol University; Queen Sirikit National Institute of Child Health