Browsing by Author Vorasuk Shotelersuk

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Showing results 1 to 10 of 10
Issue DateTitleAuthor(s)
1-Jan-2019Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutationChitsanupong Ratarat; Chupong Ittiwut; Rungrote Natesirinilkul; Lalita Sathitsamitpong; Kanda Fanhchaksai; Pimlak Charoenkwan; Kanya Suphapeetiporn; Vorasuk Shotelersuk
16-Sep-2017Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in ThailandPongsathorn Chaiyasap; Chupong Ittiwut; Chalurmpon Srichomthong; Apiruk Sangsin; Kanya Suphapeetiporn; Vorasuk Shotelersuk
16-Jul-2018The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: A case reportChulaluck Kuptanon; Chalurmpon Srichomthong; Apiruk Sangsin; Dool Kovitvanitcha; Kanya Suphapeetiporn; Vorasuk Shotelersuk
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-2017A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parentsSiraprapa Tongkobpetch; Noppachart Limpaphayom; Apiruk Sangsin; Thantrira Porntaveetus; Kanya Suphapeetiporn; Vorasuk Shotelersuk
1-Jan-2019A Novel GNAS Mutation Causing Isolated Infantile Cushing's SyndromePrapai Dejkhamron; Chupong Ittiwut; Hataitip Tangngam; Kanokkarn Sunkonkit; Rungrote Natesirinilkul; Kanya Suphapeetiporn; Vorasuk Shotelersuk
1-Jan-2018Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemiaChupong Ittiwut; Rungrote Natesirinilkul; Fuanglada Tongprasert; Lalita Sathitsamitphong; Chane Choed-amphai; Kanda Fanhchaksai; Pimlak Charoenkwan; Kanya Suphapeetiporn; Vorasuk Shotelersuk
12-Dec-2016Short 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 reportApiruk Sangsin; Chalurmpon Srichomthong; Monnat Pongpanich; Kanya Suphapeetiporn; Vorasuk Shotelersuk
4-Mar-2017Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case reportApiruk Sangsin; Chulaluck Kuptanon; Chalurmpon Srichomthong; Monnat Pongpanich; Kanya Suphapeetiporn; Vorasuk Shotelersuk
1-Jan-2008Two novel EBP mutations in Conradi-Hünermann-Happle syndromeSurasawadee Ausavarat; Pranoot Tanpaiboon; Siraprapa Tongkobpetch; Kanya Suphapeetiporn; Vorasuk Shotelersuk