Browsing by Author Pranoot Tanpaiboon

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Showing results 1 to 15 of 15
Issue DateTitleAuthor(s)
1-Jan-2014Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutationsPiranit Nik Kantaputra; Hulya Kayserili; Yeliz Guven; Warissara Kantaputra; Mehmet C. Balci; Pranoot Tanpaiboon; Napaporn Tananuvat; Anusha Uttarilli; Ashwin Dalal
1-Aug-2009Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutationPranoot Tanpaiboon; Rekwan Sittiwangkul; Prapai Dejkhamron; Metawee Srikummool; Warissara Sripathomsawat; Piranit Kantaputra
1-Dec-2021Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patientsThipwimol Tim-Aroon; Khunton Wichajarn; Kamornwan Katanyuwong; Pranoot Tanpaiboon; Nithiwat Vatanavicharn; Kullasate Sakpichaisakul; Arthaporn Kongkrapan; Jakris Eu-ahsunthornwattana; Supranee Thongpradit; Kanya Moolsuwan; Nusara Satproedprai; Surakameth Mahasirimongkol; Tassanee Lerksuthirat; Bhoom Suktitipat; Natini Jinawath; Duangrurdee Wattanasirichaigoon
1-Mar-2016Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosisPrapai Dejkhamron; Karn Wejapikul; Kevalee Unachak; Phannee Sawangareetrakul; Pranoot Tanpaiboon; Duangrurdee Wattanasirichaigoon
1-Dec-2017Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defectsPaul Kruszka; Pranoot Tanpaiboon; Katherine Neas; Kathleen Crosby; Seth I. Berger; Ariel F. Martinez; Yonit A. Addissie; Yupada Pongprot; Rekwan Sittiwangkul; Suchaya Silvilairat; Krit Makonkawkeyoon; Lan Yu; Julia Wynn; James T. Bennett; Heather C. Mefford; William T. Reynolds; Xiaoqin Liu; Mathilda T.M. Mommersteeg; Wendy K. Chung; Cecilia W. Lo; Maximilian Muenke
1-Jan-2005A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild syndrome?Piranit N. Kantaputra; Pranoot Tanpaiboon
1-Sep-2017Noonan syndrome in diverse populationsPaul Kruszka; Antonio R. Porras; Yonit A. Addissie; Angélica Moresco; Sofia Medrano; Gary T.K. Mok; Gordon K.C. Leung; Cedrik Tekendo-Ngongang; Annette Uwineza; Meow Keong Thong; Premala Muthukumarasamy; Engela Honey; Ekanem N. Ekure; Ogochukwu J. Sokunbi; Nnenna Kalu; Kelly L. Jones; Julie D. Kaplan; Omar A. Abdul-Rahman; Lisa M. Vincent; Amber Love; Khadija Belhassan; Karim Ouldim; Ihssane El Bouchikhi; Anju Shukla; Katta M. Girisha; Siddaramappa J. Patil; Nirmala D. Sirisena; Vajira H.W. Dissanayake; C. Sampath Paththinige; Rupesh Mishra; Eva Klein-Zighelboim; Bertha E. Gallardo Jugo; Miguel Chávez Pastor; Hugo H. Abarca-Barriga; Steven A. Skinner; Eloise J. Prijoles; Eben Badoe; Ashleigh D. Gill; Vorasuk Shotelersuk; Patroula Smpokou; Monisha S. Kisling; Carlos R. Ferreira; Leon Mutesa; Andre Megarbane; Antonie D. Kline; Amy Kimball; Emmy Okello; Peter Lwabi; Twalib Aliku; Emmanuel Tenywa; Nonglak Boonchooduang; Pranoot Tanpaiboon; Antonio Richieri-Costa; Ambroise Wonkam; Brian H.Y. Chung; Roger E. Stevenson; Marshall Summar; Kausik Mandal; Shubha R. Phadke; María G. Obregon; Marius G. Linguraru; Maximilian Muenke
1-Oct-2020Noonan Syndrome in Thai ChildrenNonglak Boonchooduang; Orawan Louthrenoo; Pranoot Tanpaiboon
1-Mar-2019Oral manifestations in patients and dogs with mucopolysaccharidosis Type VIIPiranit N. Kantaputra; Lachlan J. Smith; Margret L. Casal; Chulaluck Kuptanon; Yu Cheng Chang; Sheela Nampoothiri; Apichai Paiyarom; Thanat Veerasakulwong; Objoon Trachoo; James R. Ketudat Cairns; Wannapa Chinadet; Pranoot Tanpaiboon
1-Jan-2014Oral manifestations of 17 patients affected with mucopolysaccharidosis type VIPiranit Nik Kantaputra; Hülya Kayserili; Yeliz Güven; Warissara Kantaputra; Mehmet C. Balci; Pranoot Tanpaiboon; Anusha Uttarilli; Ashwin Dalal
1-Jan-2011Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndromeWarissara Sripathomsawat; Pranoot Tanpaiboon; Jan Heering; Volker Dötsch; Raoul C M Hennekam; Piranit Kantaputra
15-May-2005Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181-190] [4] (multiple letters)Judith G. Hall; Piranit Nik Kantaputra; Pranoot Tanpaiboon
1-Jun-2011The smallest teeth in the world are caused by mutations in the PCNT genePiranit Kantaputra; Pranoot Tanpaiboon; Thantrira Porntaveetus; Atsushi Ohazama; Paul Sharpe; Anita Rauch; Atiwat Hussadaloy; Christian T. Thiel
1-Jan-2008Thyroid functions in children with Down's syndromeKevalee Unachak; Pranoot Tanpaiboon; Yupada Pongprot; Rekwan Sittivangkul; Suchaya Silvilairat; Prapai Dejkhamron; Jutamas Sudasna
1-Jan-2008Two novel EBP mutations in Conradi-Hünermann-Happle syndromeSurasawadee Ausavarat; Pranoot Tanpaiboon; Siraprapa Tongkobpetch; Kanya Suphapeetiporn; Vorasuk Shotelersuk