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Japanese Journal of Clinical Oncology|October 18, 2006
PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skippingKanya Suphapeetiporn, Pradermchai Kongkam, Jarturon Tantivatana, et al.
The Journal of Craniofacial Surgery|January 26, 2013
FGFR1 and FGFR2 mutations in Pfeiffer syndromeChayanin Chokdeemboon, Charan Mahatumarat, Nond Rojvachiranonda, et al.
Journal of Medical Genetics|October 22, 2014
Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type ISawitree Rattanasopha, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, et al.
Clinical Therapeutics|May 27, 2020
Dosage Optimization of Efavirenz Based on a Population Pharmacokinetic-Pharmacogenetic Model of HIV-infected Patients in ThailandPiyawat Chaivichacharn, Anchalee Avihingsanon, Weerawat Manosuthi, et al.
The Journal of Craniofacial Surgery|January 25, 2003
FGFR2 mutations among Thai children with Crouzon and Apert syndromesVorasuk Shotelersuk, Charan Mahatumarat, Chupong Ittiwut, et al.
American Journal of Rhinology|April 18, 2008
Expression of mammaglobins A and B in nasal polyps is similar in patients with and without allergic rhinitisSupinda Chusakul, Chuntima Phannaso, Siraprapa Tongkobpetch, et al.
Archivum Immunologiae Et Therapiae Experimentalis|March 25, 2014
In vitro correction of a novel splicing alteration in the BTK gene by using antisense morpholino oligonucleotidesNatthakorn Rattanachartnarong, Siraprapa Tongkobpetch, Pantipa Chatchatee, et al.
Journal of Human Genetics|May 31, 2013
A common and two novel GBA mutations in Thai patients with Gaucher diseaseRachaneekorn Tammachote, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, et al.
Gene|March 28, 2012
Two novel CTNS mutations in cystinosis patients in ThailandPatra Yeetong, Siraprapa Tongkobpetch, Pornchai Kingwatanakul, et al.
Journal of Advanced Research|February 20, 2020
A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2Nalinee Hemwong, Chureerat Phokaew, Chalurmpon Srichomthong, et al.
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