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Browsing by Author Chalurmpon Srichomthong

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Showing results 1 to 5 of 5

Issue Date	Title	Author(s)
16-Sep-2017	Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand	Pongsathorn Chaiyasap; Chupong Ittiwut; Chalurmpon Srichomthong; Apiruk Sangsin; Kanya Suphapeetiporn; Vorasuk Shotelersuk
16-Jul-2018	The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: A case report	Chulaluck Kuptanon; Chalurmpon Srichomthong; Apiruk Sangsin; Dool Kovitvanitcha; Kanya Suphapeetiporn; Vorasuk Shotelersuk
12-Dec-2016	Short 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 report	Apiruk Sangsin; Chalurmpon Srichomthong; Monnat Pongpanich; Kanya Suphapeetiporn; Vorasuk Shotelersuk
1-Dec-2021	The Thai reference exome (T-REx) variant database	Vorasuk 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-2017	Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report	Apiruk Sangsin; Chulaluck Kuptanon; Chalurmpon Srichomthong; Monnat Pongpanich; Kanya Suphapeetiporn; Vorasuk Shotelersuk

Showing results 1 to 5 of 5