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Browsing by Author Vorasuk Shotelersuk
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Showing results 6 to 22 of 22
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Issue Date
Title
Author(s)
1-Oct-2021
Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10
Chawan Manaspon
;
Ponghatai Boonsimma
;
Chureerat Phokaew
;
Thanakorn Theerapanon
;
Kanokwan Sriwattanapong
;
Thantrira Porntaveetus
;
Vorasuk Shotelersuk
1-Jan-2022
Genetic basis of sudden death after COVID-19 vaccination in Thailand
Chupong 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-2017
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
Pongsathorn Chaiyasap
;
Chupong Ittiwut
;
Chalurmpon Srichomthong
;
Apiruk Sangsin
;
Kanya Suphapeetiporn
;
Vorasuk Shotelersuk
16-Jul-2018
The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: A case report
Chulaluck Kuptanon
;
Chalurmpon Srichomthong
;
Apiruk Sangsin
;
Dool Kovitvanitcha
;
Kanya Suphapeetiporn
;
Vorasuk Shotelersuk
1-Mar-2022
Multifaceted roles of YEATS domain-containing proteins and novel links to neurological diseases
Ranchana Yeewa
;
Pawita Chaiya
;
Salinee Jantrapirom
;
Vorasuk Shotelersuk
;
Luca Lo Piccolo
1-Sep-2017
Noonan syndrome in diverse populations
Paul 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-2017
A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents
Siraprapa Tongkobpetch
;
Noppachart Limpaphayom
;
Apiruk Sangsin
;
Thantrira Porntaveetus
;
Kanya Suphapeetiporn
;
Vorasuk Shotelersuk
1-Jan-2019
A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome
Prapai Dejkhamron
;
Chupong Ittiwut
;
Hataitip Tangngam
;
Kanokkarn Sunkonkit
;
Rungrote Natesirinilkul
;
Kanya Suphapeetiporn
;
Vorasuk Shotelersuk
1-Jan-2018
Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia
Chupong Ittiwut
;
Rungrote Natesirinilkul
;
Fuanglada Tongprasert
;
Lalita Sathitsamitphong
;
Chane Choed-amphai
;
Kanda Fanhchaksai
;
Pimlak Charoenkwan
;
Kanya Suphapeetiporn
;
Vorasuk Shotelersuk
1-Jan-2022
Pre-implantation genetic testing for Marfan syndrome using mini-sequencing
Sirivipa Piyamongkol
;
Krit Makonkawkeyoon
;
Vorasuk Shotelersuk
;
Opas Sreshthaputra
;
Tawiwan Pantasri
;
Rekwan Sittiwangkul
;
Theera Tongsong
;
Wirawit Piyamongkol
1-Jan-2021
Prenatal sonographic features of charge syndrome
Kuntharee Traisrisilp
;
Wisit Chankhunaphas
;
Rekwan Sittiwangkul
;
Chureerat Phokaew
;
Vorasuk Shotelersuk
;
Theera Tongsong
1-Aug-2021
Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review
Tanu Tangsricharoen
;
Rungrote Natesirinilkul
;
Arunee Phusua
;
Kanda Fanhchaksai
;
Chupong Ittiwut
;
Wanna Chetruengchai
;
Monthana Juntharaniyom
;
Pimlak Charoenkwan
;
Vip Viprakasit
;
Chureerat Phokaew
;
Vorasuk Shotelersuk
12-Dec-2016
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 report
Apiruk Sangsin
;
Chalurmpon Srichomthong
;
Monnat Pongpanich
;
Kanya Suphapeetiporn
;
Vorasuk Shotelersuk
19-Dec-2019
A somatic pik3ca p.h1047l mutation in a Thai patient with isolated macrodactyly: A case report
Wandee Udomchaiprasertkul
;
Pravit Kitidumrongsook
;
Kanya Suphapeetiporn
;
Vorasuk Shotelersuk
1-Dec-2021
The Thai reference exome (T-REx) variant database
Vorasuk 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
4-Mar-2017
Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report
Apiruk Sangsin
;
Chulaluck Kuptanon
;
Chalurmpon Srichomthong
;
Monnat Pongpanich
;
Kanya Suphapeetiporn
;
Vorasuk Shotelersuk
1-Jan-2008
Two novel EBP mutations in Conradi-Hünermann-Happle syndrome
Surasawadee Ausavarat
;
Pranoot Tanpaiboon
;
Siraprapa Tongkobpetch
;
Kanya Suphapeetiporn
;
Vorasuk Shotelersuk