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Results 1-10 of 34 (Search time: 0.008 seconds).
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Issue DateTitleAuthor(s)
2010A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromeKantaputra P.N.; Mundlos S.; Sripathomsawat W.
2002A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: Report of a Thai familyKantaputra P.N.; Yamasaki K.; Ishida T.; Kishino T.; Niikawa N.
2005A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild syndrome?Kantaputra P.N.; Tanpaiboon P.
2006A newly recognized polyosteolysis/hyperostosis syndromeKantaputra P.N.; Limwongse C.; Koolvisoot A.; Ausawamongkolkul A.; Tayavitit S.
2014BCOR mutations and unstoppable root growth: A commentary on oculofaciocardiodental syndrome: Novel BCOR mutations and expression in dental cellsKantaputra P.N.
2014Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutationsKantaputra P.N.; Kayserili H.; Guven Y.; Kantaputra W.; Balci M.C.; Tanpaiboon P.; Tananuvat N.; Uttarilli A.; Dalal A.
2002Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: Report of a four-generation Thai familyKantaputra P.N.; Sumitsawan Y.; Schutte B.C.; Tochareontanaphol C.
2014Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensationGuven Y.; Altunoglu U.; Aktoren O.; Uyguner Z.O.; Kayserili H.; Kaewkahya M.; Kantaputra P.N.
2001Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: New syndrome or Fraser syndrome?Kantaputra P.N.; Eiumtrakul P.; Matin T.; Opastirakul S.; Visrutaratna P.; Mevate U.
2001Laurin-Sandrow syndrome with additional associated manifestationsKantaputra P.N.