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Browsing by Author Vorasuk Shotelersuk

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Issue DateTitleAuthor(s)
1-Jan-2022Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestationsSermporn Thaweesapphithak; Jirawat Saengsin; Wuttichart Kamolvisit; Thanakorn Theerapanon; Thantrira Porntaveetus; Vorasuk Shotelersuk
1-Jul-2021Coinherited Hemoglobin H/Constant Spring Disease and Heterozygous Hemoglobin Tak Causing Severe Hemolytic Anemia in a Thai BoyChane Choed-Amphai; Arunee Phusua; Chupong Ittiwut; Pimlak Charoenkwan; Kanya Suphapeetiporn; Vorasuk Shotelersuk
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
1-Jul-2020Dosage Optimization of Efavirenz Based on a Population Pharmacokinetic–Pharmacogenetic Model of HIV-infected Patients in ThailandPiyawat Chaivichacharn; Anchalee Avihingsanon; Weerawat Manosuthi; Sasiwimol Ubolyam; Siraprapa Tongkobpetch; Vorasuk Shotelersuk; Baralee Punyawudho
1-Sep-2020Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromesChureerat Phokaew; Rekwan Sittiwangkul; Kanya Suphapeetiporn; Vorasuk Shotelersuk
1-Oct-2021Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10Chawan Manaspon; Ponghatai Boonsimma; Chureerat Phokaew; Thanakorn Theerapanon; Kanokwan Sriwattanapong; Thantrira Porntaveetus; Vorasuk Shotelersuk
1-Jan-2022Genetic basis of sudden death after COVID-19 vaccination in ThailandChupong Ittiwut; Surakameth Mahasirimongkol; Smith Srisont; Rungnapa Ittiwut; Manoch Chockjamsai; Piya Durongkadech; Waritta Sawaengdee; Athiwat Khunphon; Kanidsorn Larpadisorn; Sukanya Wattanapokayakit; Suppachok Wetchaphanphesat; Surachet Arunotong; Suphot Srimahachota; Chakrarat Pittayawonganon; Panithee Thammawijaya; Derek Sutdan; Pawinee Doungngern; Apichai Khongphatthanayothin; Stephen J. Kerr; 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-Mar-2022Multifaceted roles of YEATS domain-containing proteins and novel links to neurological diseasesRanchana Yeewa; Pawita Chaiya; Salinee Jantrapirom; Vorasuk Shotelersuk; Luca Lo Piccolo
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
1-Jan-2022Pre-implantation genetic testing for Marfan syndrome using mini-sequencingSirivipa Piyamongkol; Krit Makonkawkeyoon; Vorasuk Shotelersuk; Opas Sreshthaputra; Tawiwan Pantasri; Rekwan Sittiwangkul; Theera Tongsong; Wirawit Piyamongkol
1-Jan-2021Prenatal sonographic features of charge syndromeKuntharee Traisrisilp; Wisit Chankhunaphas; Rekwan Sittiwangkul; Chureerat Phokaew; Vorasuk Shotelersuk; Theera Tongsong
1-Aug-2021Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature reviewTanu Tangsricharoen; Rungrote Natesirinilkul; Arunee Phusua; Kanda Fanhchaksai; Chupong Ittiwut; Wanna Chetruengchai; Monthana Juntharaniyom; Pimlak Charoenkwan; Vip Viprakasit; Chureerat Phokaew; 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
19-Dec-2019A somatic pik3ca p.h1047l mutation in a Thai patient with isolated macrodactyly: A case reportWandee Udomchaiprasertkul; Pravit Kitidumrongsook; Kanya Suphapeetiporn; Vorasuk Shotelersuk
1-Dec-2021The Thai reference exome (T-REx) variant databaseVorasuk Shotelersuk; Duangdao Wichadakul; Chumpol Ngamphiw; Chalurmpon Srichomthong; Chureerat Phokaew; Alisa Wilantho; Sujiraporn Pakchuen; Vorthunju Nakhonsri; Philip James Shaw; Rujipat Wasitthankasem; Jittima Piriyapongsa; Pongsakorn Wangkumhang; Adjima Assawapitaksakul; Wanna Chetruengchai; Keswadee Lapphra; Athiphat Khuninthong; Pattarapong Makarawate; Kanya Suphapeetiporn; Surakameth Mahasirimongkol; Nusara Satproedprai; Thantrira Porntaveetus; Prapaporn Pisitkun; Verayuth Praphanphoj; Piranit Kantaputra; Wichittra Tassaneeyakul; Sissades Tongsima
Showing results 1 to 20 of 22  next >