Genetics and genomics in Thailand: challenges and opportunities

por Shotelersuk, Vorasuk, Limwongse, Chanin, Mahasirimongkol, Surakameth
Publicado 2014

Human asparagine synthetase associates with the mitotic spindle

por Noree, Chalongrat, Monfort, Elena, Shotelersuk, Vorasuk
Publicado 2018

Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internis...

por Phowthongkum, Prasit, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado 2019

A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing

por Porntaveetus, Thantrira, Srichomthong, Chalurmpon, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado 2015

MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders

por Caengprasath, Natarin, Theerapanon, Thanakorn, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Publicado 2021

Short 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 repo...

por Sangsin, Apiruk, Srichomthong, Chalurmpon, Pongpanich, Monnat, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado 2016

Generation and characterization of HLA-universal platelets derived from induced pluripotent stem cells

por Norbnop, Phatchara, Ingrungruanglert, Praewphan, Israsena, Nipan, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado 2020

Comparative transcriptome profiles of human dental pulp stem cells from maxillary and mandibular teeth

por Faruangsaeng, Thira, Thaweesapphitak, Sermporn, Khamwachirapitak, Chompak, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Publicado 2022

Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated Syndrome: A Case Report

por Yeetong, Patra, Tanpowpong, Natthaporn, Rakwongkhachon, Supphakorn, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado 2022

Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature

por Sriwattanapong, Kanokwan, Theerapanon, Thanakorn, Boonprakong, Lawan, Srijunbarl, Anucharte, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Publicado 2023

A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I

por Prommajan, Korrakot, Ausavarat, Surasawadee, Srichomthong, Chalurmpon, Puangsricharern, Vilavun, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado 2011

Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy

por Chaiyasap, Pongsathorn, Kulawonganunchai, Supasak, Srichomthong, Chalurmpon, Tongsima, Sissades, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado 2014

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report

por Charnwichai, Pattaranatcha, Yeetong, Patra, Suphapeetiporn, Kanya, Supornsilchai, Vichit, Sahakitrungruang, Taninee, Shotelersuk, Vorasuk
Publicado 2016

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report

por Sangsin, Apiruk, Kuptanon, Chulaluck, Srichomthong, Chalurmpon, Pongpanich, Monnat, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado 2017

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

por Chaiyasap, Pongsathorn, Ittiwut, Chupong, Srichomthong, Chalurmpon, Sangsin, Apiruk, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado 2017

Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review

por Wejjakul, Witchuree, Chatmaitri, Swist, Wattanarojanaporn, Thongek, Pongkunakorn, Anuwat, Ittiwut, Chupong, Shotelersuk, Vorasuk
Publicado 2017

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents

por Tongkobpetch, Siraprapa, Limpaphayom, Noppachart, Sangsin, Apiruk, Porntaveetus, Thantrira, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado 2017

Erratum: Missing Sentence and Word

por Wejjakul, Witchuree, Chatmaitri, Swist, Wattanarojanaporn, Thongek, Pongkunakorn, Anuwat, Ittiwut, Chupong, Shotelersuk, Vorasuk
Publicado 2018

The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report

por Kuptanon, Chulaluck, Srichomthong, Chalurmpon, Sangsin, Apiruk, Kovitvanitcha, Dool, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado 2018

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly

por Budsamongkol, Thunyaporn, Intarak, Narin, Theerapanon, Thanakorn, Yodsanga, Somchai, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Publicado 2019