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Browsing by Author Worrachet Intachai

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Showing results 8 to 21 of 21 < previous 
Issue DateTitleAuthor(s)
1-Jan-2020Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantationNapaporn Tananuvat; Rak Tananuvat; Wattana Chartapisak; Pongsak Mahanupab; Chananya Hokierti; Metawee Srikummool; Jatupol Kampuansai; Worrachet Intachai; Bjorn Olsen; James R. Ketudat Cairns; Piranit Kantaputra
1-Jan-2018Isolated dentinogenesis imperfecta with glass-like enamel caused by COL1A2 mutationPiranit Nik Kantaputra; Wannapa Chinadet; Worrachet Intachai; Chumpol Ngamphiw; James R. Ketudat Cairns; Sissades Tongsima
1-Nov-2020Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2Piranit Nik Kantaputra; Prapai Dejkhamron; Sissades Tongsima; Chumpol Ngamphiw; Worrachet Intachai; Lukana Ngiwsara; Phannee Sawangareetrakul; Jisnuson Svasti; Bjorn Olsen; James R.Ketudat Cairns; Kanokkan Bumroongkit
1-Feb-2021Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2Piranit Nik Kantaputra; Prapai Dejkhamron; Worrachet Intachai; Chumpol Ngamphiw; Katsushige Kawasaki; Atsushi Ohazama; Suttichai Krisanaprakornkit; Bjorn Olsen; Sissades Tongsima; Jame R. Ketudat Cairns
1-Oct-2022Mutations in LRP6 highlight the role of WNT signaling in oral exostoses and dental anomaliesPiranit Kantaputra; Peeranat Jatooratthawichot; Kanoknart Chintakanon; Worrachet Intachai; Prapat Pradermdutsadeeporn; Ploy Adisornkanj; Sissades Tongsima; Chumpol Ngamphiw; Bjorn Olsen; Abigail S. Tucker; James R. Ketudat Cairns
1-Jan-2022Novel Dental Anomaly–associated Mutations in WNT10A Protein Binding SitesPiranit Kantaputra; Peeranat Jatooratthawichot; Oranuch Tantachamroon; Kamonporn Nanekrungsan; Worrachet Intachai; Bjorn Olsen; Sissades Tongsima; Chumpol Ngamphiw; James R.Ketudat Cairns
1-Dec-2021A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomaliesPiranit Nik Kantaputra; Prapai Dejkhamron; Worrachet Intachai; Chumpol Ngamphiw; James R. Ketudat Cairns; Katsushige Kawasaki; Atsushi Ohazama; Bjorn Olsen; Sissades Tongsima; Salita Angkurawaranon
1-Jul-2018Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutationPiranit Nik Kantaputra; Yuddhasert Sirirungruangsarn; Worrachet Intachai; Chumpol Ngamphiw; Sissades Tongsima; Prapai Dejkhamron
1-Oct-2021SERPINA1, generalized pustular psoriasis, and adult-onset immunodeficiencyPiranit Kantaputra; Suteeraporn Chaowattanapanit; Salin Kiratikanon; Romanee Chaiwarith; Chareon Choonhakarn; Worrachet Intachai; Natalina Quarto; Sissades Tongsima; James R. Ketudat Cairns; Chumpol Ngamphiw; John A. McGrath; Mati Chuamanochan
1-Jul-2018Split hand-foot malformation and a novel WNT10B mutationPiranit Nik Kantaputra; Seema Kapoor; Prashant Verma; Worrachet Intachai; James R. Ketudat Cairns
1-Sep-2020Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapesPiranit Nik Kantaputra; Kanich Tripuwabhrut; Worrachet Intachai; Bruce M. Carlson; Natalina Quarto; Chumpol Ngamphiw; Sissades Tongsima; Nuntigar Sonsuwan
1-Jul-2020TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphologyPiranit Nik Kantaputra; Dhirawat Jotikasthira; Bruce Carlson; Teerapat Wongmaneerung; Natalina Quarto; Theerapong Khankasikum; Warit Powcharoen; Worrachet Intachai; Kanich Tripuwabhrut
1-Aug-2021A truncating variant in SERPINA3, skin pustules and adult-onset immunodeficiencyPiranit Nik Kantaputra; Mati Chuamanochan; Salin Kiratikanon; Siri Chiewchanvit; Romanee Chaiwarith; Worrachet Intachai; Natalina Quarto; Sissades Tongsima; John A. McGrath; Chumpol Ngamphiw
1-Apr-2019WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cystsPiranit Nik Kantaputra; Yuddhasert Sirirungruangsarn; Pannee Visrutaratna; Sasitorn Petcharunpaisan; Bruce M. Carlson; Worrachet Intachai; Jutamas Sudasna; Jatupol Kampuansai; Prapai Dejkhamron
Showing results 8 to 21 of 21 < previous