Thanatophoric dysplasia: Roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient

بواسطة Duangrurdee Wattanasirichaigoon, Dussadee Charoenpipop
منشور في 2018

Strokes in Thai children : Etiology and outcome

بواسطة Pongsakdi Visudhiphan, Surang Chiemchanya, Duangrurdee Wattanasirichaigoon
منشور في 2018

A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report

بواسطة Poomiporn Katanyuwong, Arthaporn Khongkraparn, Duangrurdee Wattanasirichaigoon
منشور في 2022

5'UTR Repeat Polymorphisms of the BMPR2 gene in Children with Pulmonary Hypertension associated with Congenital Heart Disease

بواسطة Alisa Limsuwan, Lulin Choubtum, Duangrurdee Wattanasirichaigoon
منشور في 2018

Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2)

بواسطة Duangrurdee Wattanasirichaigoon, Pim Suwannarat, Supranee Thongpradit
منشور في 2018

A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies

بواسطة Thipwimol Tim-aroon, Suphaneewan Jaovisidha, Duangrurdee Wattanasirichaigoon
منشور في 2018

Isolated lissencephaly sequence with contiguous gene deletion detected by FISH analysis: A case report

بواسطة Duangrurdee Wattanasirichaigoon, Chintana Tocharoenthanaphol, Anannit Visudtibhan, Surang Chiemchanya
منشور في 2018

Clinical and laboratory findings and outcomes of classic organic acidurias in children from north-eastern Thailand: A 5-year retrospective study

بواسطة Khunton Wichajarn, Somporn Liammongkolkul, Nithiwat Vatanavicharn, Duangrurdee Wattanasirichaigoon
منشور في 2018

Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency

بواسطة Parith Wongkittichote, Sumalee Tungpradabkul, Duangrurdee Wattanasirichaigoon, Laran T. Jensen
منشور في 2018

Mutations of ATP7B gene in two Thai siblings with Wilson disease

بواسطة Suporn Treepongkaruna, Paneeya Pienvichit, Pornpimon Phuapradit, Porawee Kodcharin, Duangrurdee Wattanasirichaigoon
منشور في 2018

Expanding the phenotypic spectrum of Lenz-Majewski syndrome: Facial palsy, cleft palate and hydrocephalus

بواسطة Duangrurdee Wattanasirichaigoon, Anannit Visudtibhan, Suphaneewan Jaovisidha, Jiraporn Laothamatas, Amornsri Chunharas
منشور في 2018

Carnitine levels and cardiac functions in children with solid malignancies receiving doxorubicin therapy

بواسطة Anant Khositseth, Suwadee Jirasakpisarn, Samart Pakakasama, Lulin Choubtuym, Duangrurdee Wattanasirichaigoon
منشور في 2018

Development of food products using fish maw (Pangasius hypophthalmus) and roasted sunflower kernel (Helianthus annuus) for branched-chain organic acidurias patients

بواسطة Suthida Chatvuttinun, Visith Chavasit, Duangrurdee Wattanasirichaigoon, Umaporn Suthutvoravut, Nalinee Chongviriyaphan
منشور في 2019

A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria

بواسطة Nongnuch Sirachainan, Duangrurdee Wattanasirichaigoon, Pim Suwannarat, Werasak Sasanakul, Ampaiwan Chuansumrit
منشور في 2018

Correction to: Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience (Journ...

بواسطة Sukrit Suwannachat, Duangrurdee Wattanasirichaigoon, Jiraporn Arunakul, Vilawan Chirdkiatgumchai, Thipwimol Tim-Aroon
منشور في 2020

Genotype and age at diagnosis in Thai boys with Duchenne muscular dystrophy (DMD)

بواسطة Pattareeya Yamputchong, Theeraphong Pho-iam, Chanin Limwongse, Duangrurdee Wattanasirichaigoon, Oranee Sanmaneechai
منشور في 2020

Compound heterozygote of point mutation and chromosomal microdeletion involving otud6b coinciding with zmiz1 variant in syndromic intellectual disability

بواسطة Tim Phetthong, Arthaporn Khongkrapan, Natini Jinawath, Go Hun Seo, Duangrurdee Wattanasirichaigoon
منشور في 2022

Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience

بواسطة Sukrit Suwannachat, Duangrurdee Wattanasirichaigoon, Jiraporn Arunakul, Vilawan Chirdkiatgumchai, Thipwimol Tim-Aroon
منشور في 2020

Whole Exome Sequencing Revealing RYR1 Pathogenic Variant in an Exceptional Family with Malignant Hyperthermia Susceptibility

بواسطة Arthaporn Khongkraparn, Nitcha Khunin, Thipwimol Tim-Aroon, Tanit Virankabutra, Duangrurdee Wattanasirichaigoon
منشور في 2022

Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand

بواسطة Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkrapan, Preamrudee Poomthavorn, Duangrurdee Wattanasirichaigoon
منشور في 2020