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Browsing by Author Vorasuk Shotelersuk

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Showing results 15 to 22 of 22 < previous 
Issue DateTitleAuthor(s)
1-Jan-2022Pre-implantation genetic testing for Marfan syndrome using mini-sequencingSirivipa Piyamongkol; Krit Makonkawkeyoon; Vorasuk Shotelersuk; Opas Sreshthaputra; Tawiwan Pantasri; Rekwan Sittiwangkul; Theera Tongsong; Wirawit Piyamongkol
1-Jan-2021Prenatal sonographic features of charge syndromeKuntharee Traisrisilp; Wisit Chankhunaphas; Rekwan Sittiwangkul; Chureerat Phokaew; Vorasuk Shotelersuk; Theera Tongsong
1-Aug-2021Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature reviewTanu Tangsricharoen; Rungrote Natesirinilkul; Arunee Phusua; Kanda Fanhchaksai; Chupong Ittiwut; Wanna Chetruengchai; Monthana Juntharaniyom; Pimlak Charoenkwan; Vip Viprakasit; Chureerat Phokaew; 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 15 to 22 of 22 < previous