List of works - Kitiwan Rojnueangnit

Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.

scientific article published on 21 September 2017

Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

scientific article

Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing

scientific article published in 2020

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

scientific article published on 11 September 2019

Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

scientific article published on 07 August 2019

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of POLG c.3286C>T Variant

scientific article published on 07 February 2021

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

scientific article

Craniosynostosis and radial ray defect: a rare presentation of 22q11.2 deletion syndrome

scientific article published on 27 June 2013

Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation

scientific article published on 01 July 2014

Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing

scientific article published on 11 November 2019

LACHT syndrome (Mardini-Nyhan association) with tracheal stenosis in a Thai newborn

scientific article published on 09 July 2020

Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.

scientific article published on 5 April 2017

Oxygen saturation trends in preterm infants during the first 15 min after birth

scientific article published on 05 November 2009

Predictor(s) of Abnormal Array Comparative Genomic Hybridization Results in Patients With Cleft Lip and/or Palate.

scientific article published on 9 December 2014

Quality of life and comprehensive health supervision for children with Down syndrome in Thailand

scientific article published on 22 February 2020

Sex-discordant monochorionic twins with blood and tissue chimerism

scientific article published on 23 February 2015

Studying Down syndrome recognition probabilities in Thai children with de-identified computer-aided facial analysis

scientific article published on 02 August 2018

List of works by Kitiwan Rojnueangnit