Search


Current filters:



Start a new search
Add filters:

Use filters to refine the search results.


Results 1-7 of 7 (Search time: 0.002 seconds).
  • previous
  • 1
  • next
Item hits:
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-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-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-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-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-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