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Browsing by Author Chumpol Ngamphiw

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Showing results 2 to 17 of 17 < previous 
Issue DateTitleAuthor(s)
1-Jan-2020Characterization and identification of Hb Bart’s hydrops fetalis caused by a compound heterozygous mutation --<sup>SEA</sup>/--<sup>CR</sup>, a novel α<sup>0</sup>-thalassemia deletionChedtapak Ruengdit; Sitthichai Panyasai; Naowarat Kunyanone; Worawich Phornsiricharoenphant; Chumpol Ngamphiw; Sissades Tongsima; Orapan Sripichai; Serge Pissard; Sakorn Pornprasert
1-Feb-2022Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutationPiranit Nik Kantaputra; Nutsuchar Wangtiraumnuay; Chumpol Ngamphiw; Bjorn Olsen; Worrachet Intachai; Abigail S. Tucker; Sissades Tongsima
1-Jan-2022Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndromePiranit Kantaputra; Yeliz Guven; Tugba Kalayci; Pelin Karaca Özer; Wannakamon Panyarak; Worrachet Intachai; Bjorn Olsen; Bruce M. Carlson; Oranud Praditsap; Sissades Tongsima; Chumpol Ngamphiw; Peeranat Jatooratthawichot; Abigail S. Tucker; James R. Ketudat Cairns
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
11-Dec-2009Mapping human genetic diversity in AsiaMahmood Ameen Abdulla; Ikhlak Ahmed; Anunchai Assawamakin; Jong Bhak; Samir K. Brahmachari; Gayvelline C. Calacal; Amit Chaurasia; Chien Hsiun Chen; Jieming Chen; Yuan Tsong Chen; Jiayou Chu; Eva Maria C. Cutiongco-de La Paz; Maria Corazon A. De Ungria; Frederick C. Delfin; Juli Edo; Suthat Fuchareon; Ho Ghang; Takashi Gojobori; Junsong Han; Sheng Feng Ho; Boon Peng Hoh; Wei Huang; Hidetoshi Inoko; Pankaj Jha; Timothy A. Jinam; Li Jin; Jongsun Jung; Daoroong Kangwanpong; Jatupol Kampuansai; Giulia C. Kennedy; Preeti Khurana; Hyung Lae Kim; Kwangjoong Kim; Sangsoo Kim; Woo Yeon Kim; Kuchan Kimm; Ryosuke Kimura; Tomohiro Koike; Supasak Kulawonganunchai; Vikrant Kumar; Poh San Lai; Jong Young Lee; Sunghoon Lee; Edison T. Liu; Partha P. Majumder; Kiran Kumar Mandapati; Sangkot Marzuki; Wayne Mitchell; Mitali Mukerji; Kenji Naritomi; Chumpol Ngamphiw; Norio Niikawa; Nao Nishida; Bermseok Oh; Sangho Oh; Jun Ohashi; Akira Oka; Rick Ong; Carmencita D. Padilla; Prasit Palittapongarnpim; Henry B. Perdigon; Maude Elvira Phipps; Eileen Png; Yoshiyuki Sakaki; Jazelyn M. Salvador; Yuliana Sandraling; Vinod Scaria; Mark Seielstad; Mohd Ros Sidek; Amit Sinha; Metawee Srikummool; Herawati Sudoyo; Sumio Sugano; Helena Suryadi; Yoshiyuki Suzuki; Kristina A. Tabbada; Adrian Tan; Katsushi Tokunaga; Sissades Tongsima; Lilian P. Villamor; Eric Wang; Ying Wang; Haifeng Wang; Jer Yuarn Wu; Huasheng Xiao; Shuhua Xu; Jin Ok Yang; Yin Yao Shugart; Hyang Sook Yoo; Wentao Yuan; Guoping Zhao; Bin Alwi Zilfalil
1-Oct-2022Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostosesPiranit Nik Kantaputra; Yeliz Guven; Kanich Tripuwabhrut; Ploy Adisornkanj; Athiwat Hatsadaloi; Massupa Kaewgahya; Bjorn Olsen; Chumpol Ngamphiw; Peeranat Jatooratthawichot; Sissades Tongsima; James 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-Dec-2021The Thai reference exome (T-REx) variant databaseVorasuk Shotelersuk; Duangdao Wichadakul; Chumpol Ngamphiw; Chalurmpon Srichomthong; Chureerat Phokaew; Alisa Wilantho; Sujiraporn Pakchuen; Vorthunju Nakhonsri; Philip James Shaw; Rujipat Wasitthankasem; Jittima Piriyapongsa; Pongsakorn Wangkumhang; Adjima Assawapitaksakul; Wanna Chetruengchai; Keswadee Lapphra; Athiphat Khuninthong; Pattarapong Makarawate; Kanya Suphapeetiporn; Surakameth Mahasirimongkol; Nusara Satproedprai; Thantrira Porntaveetus; Prapaporn Pisitkun; Verayuth Praphanphoj; Piranit Kantaputra; Wichittra Tassaneeyakul; Sissades Tongsima
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-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
Showing results 2 to 17 of 17 < previous