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Journal of Human Genetics|July 27, 2006
MSX1 mutations contribute to nonsyndromic cleft lip in a Thai populationSiraprapa Tongkobpetch, Pichit Siriwan, Vorasuk Shotelersuk
International Journal of Molecular Medicine|September 18, 2004
ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEsVorasuk Shotelersuk, Tayard Desudchit, Siraprapa Tongkobpetch
Genetic Testing and Molecular Biomarkers|November 3, 2010
p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe diseasePramuk Amarinthnukrowh, Siraprapa Tongkobpetch, Apichai Kongpatanayothin, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|October 19, 2013
Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosisPattarapa Utokpat, Wipa Panmontha, Siraprapa Tongkobpetch, et al.
Stem Cell Research|July 22, 2019
Generation of two human iPSC lines (MDCUi001-A and MDCUi001-B) from dermal fibroblasts of a Thai patient with X-linked osteogenesis imperfecta using integration-free Sendai virusSiraprapa Tongkobpetch, Ruttachuk Rungsiwiwut, Kamthorn Pruksananonda, et al.
European Journal of Dermatology : EJD|June 25, 2008
Two novel EBP mutations in Conradi-Hünermann-Happle syndromeSurasawadee Ausavarat, Pranoot Tanpaiboon, Siraprapa Tongkobpetch, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 11, 2012
Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemiaWanee Plengpanich, Siraprapa Tongkobpetch, Vorasuk Shotelersuk, et al.
Genetics and Molecular Biology|September 29, 2017
A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parentsSiraprapa Tongkobpetch, Noppachart Limpaphayom, Apiruk Sangsin, et al.
European Journal of Human Genetics : EJHG|April 5, 2012
PDGFRa mutations in humans with isolated cleft palateSawitree Rattanasopha, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, et al.
Asian Pacific Journal of Allergy and Immunology|April 12, 2008
Nonsense mutations of the CYBB gene in two Thai families with X-linked chronic granulomatous diseasePrapaporn Vilaiphan, Pantipa Chatchatee, Jarungchit Ngamphaiboon, et al.
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