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Browsing by Author Kanya Suphapeetiporn

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Showing results 5 to 14 of 14 < previous 
Issue DateTitleAuthor(s)
16-Sep-2017Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in ThailandPongsathorn Chaiyasap; Chupong Ittiwut; Chalurmpon Srichomthong; Apiruk Sangsin; Kanya Suphapeetiporn; Vorasuk Shotelersuk
16-Jul-2018The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: A case reportChulaluck Kuptanon; Chalurmpon Srichomthong; Apiruk Sangsin; Dool Kovitvanitcha; Kanya Suphapeetiporn; Vorasuk Shotelersuk
1-Oct-2017A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parentsSiraprapa Tongkobpetch; Noppachart Limpaphayom; Apiruk Sangsin; Thantrira Porntaveetus; Kanya Suphapeetiporn; Vorasuk Shotelersuk
1-Jan-2019A Novel GNAS Mutation Causing Isolated Infantile Cushing's SyndromePrapai Dejkhamron; Chupong Ittiwut; Hataitip Tangngam; Kanokkarn Sunkonkit; Rungrote Natesirinilkul; Kanya Suphapeetiporn; Vorasuk Shotelersuk
1-Jan-2018Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemiaChupong Ittiwut; Rungrote Natesirinilkul; Fuanglada Tongprasert; Lalita Sathitsamitphong; Chane Choed-amphai; Kanda Fanhchaksai; Pimlak Charoenkwan; Kanya Suphapeetiporn; Vorasuk Shotelersuk
12-Dec-2016Short stature, platyspondyly, hip dysplasia, and retinal detachment: An atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: A case reportApiruk Sangsin; Chalurmpon Srichomthong; Monnat Pongpanich; Kanya Suphapeetiporn; Vorasuk Shotelersuk
19-Dec-2019A somatic pik3ca p.h1047l mutation in a Thai patient with isolated macrodactyly: A case reportWandee Udomchaiprasertkul; Pravit Kitidumrongsook; Kanya Suphapeetiporn; Vorasuk Shotelersuk
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
4-Mar-2017Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case reportApiruk Sangsin; Chulaluck Kuptanon; Chalurmpon Srichomthong; Monnat Pongpanich; Kanya Suphapeetiporn; Vorasuk Shotelersuk
1-Jan-2008Two novel EBP mutations in Conradi-Hünermann-Happle syndromeSurasawadee Ausavarat; Pranoot Tanpaiboon; Siraprapa Tongkobpetch; Kanya Suphapeetiporn; Vorasuk Shotelersuk
Showing results 5 to 14 of 14 < previous