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Browsing by Author Thipwimol Tim-Aroon

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Showing results 1 to 14 of 14
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
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-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-Jan-2019Correction to: Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience (Journal of Community Genetics, (2019), 10.1007/s12687-019-00435-6)Sukrit Suwannachat; Duangrurdee Wattanasirichaigoon; Jiraporn Arunakul; Vilawan Chirdkiatgumchai; Thipwimol Tim-Aroon; Faculty of Medicine, Ramathibodi Hospital, Mahidol University
6-May-2020Growth charts for Thai children with Prader-Willi syndrome aged 0-18 yearsNantiya Mongkollarp; Thipwimol Tim-Aroon; Chusak Okascharoen; Khunton Wichajarn; Jeeraparn Phosuwattanakul; Nalinee Chongviriyaphan; Duangrurdee Wattanasirichaigoon; Khon Kaen University; Faculty of Medicine, Ramathibodi Hospital, Mahidol University
1-Aug-2020Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from ThailandTim Phetthong; Thipwimol Tim-Aroon; Arthaporn Khongkrapan; Preamrudee Poomthavorn; Duangrurdee Wattanasirichaigoon; Faculty of Medicine, Ramathibodi Hospital, Mahidol 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
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
1-Jan-2019Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experienceSukrit Suwannachat; Duangrurdee Wattanasirichaigoon; Jiraporn Arunakul; Vilawan Chirdkiatgumchai; Thipwimol Tim-Aroon; Faculty of Medicine, Ramathibodi Hospital, Mahidol University
1-Jul-2020Successful parathyroidectomy with intra-operative parathyroid hormone monitoring in a neonate with severe primary hyperparathyroidism caused by homozygous mutation in CASR geneKinnaree Sorapipatcharoen; Pat Mahachoklertwattana; Thipwimol Tim-Aroon; Duangrurdee Wattanasirichaigoon; Sathit Karanes; Sani Molagool; Preamrudee Poomthavorn; Faculty of Medicine, Ramathibodi Hospital, Mahidol University
1-May-2019Two infants with abetalipoproteinemia: Classic versus atypical presentationNoparat Prachasitthisak; Pornthep Tanpowpong; Thipwimol Tim-Aroon; Suporn Treepongkaruna; Nalinee Chongviriyaphan; Niyada Vithayasai; Orawan Iamopas; Duangrurdee Wattanasirichaigoon; Faculty of Medicine, Ramathibodi Hospital, Mahidol University; Queen Sirikit National Institute of Child Health