Phawin Anantakul-Kor
Bangkok, Thailand
Last Updated: 09/26/2026
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Found 10 publications
Novel CHD7 Variants Associated with an Expanded Orofacial and Dental Phenotype.
Journal: European journal of dentistry
Published: July 15, 2026
Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohort.
Journal: Journal of medical genetics
Published: January 19, 2026
Blau syndrome initially manifested with hypercalcemia: a case report and literature review.
Journal: Annals of pediatric endocrinology & metabolism
Published: September 25, 2025
Blau syndrome initially presenting with hypercalcemia: a case report and literature review.
Journal: Annals of pediatric endocrinology & metabolism
Published: September 25, 2025
Compound heterozygous congenital protein C deficiency: a challenging management with recurrent purpura fulminans treated with protein C concentrations.
Journal: BMJ case reports
Published: May 02, 2025
Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases.
Journal: European journal of human genetics : EJHG
Published: October 07, 2024
Novel PLEC variants associated with infantile cholestasis.
Journal: Clinical genetics
Published: May 06, 2024
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.
Journal: Scientific reports
Published: July 25, 2023
Unusual presentation of alveolar capillary dysplasia with misalignment of the pulmonary veins in a child with respiratory syncytial virus pneumonia: A case report.
Journal: Respirology case reports
Published: November 10, 2022
Case Report: An Atypical Angelman Syndrome Case With Obesity and Fulfilled Autism Spectrum Disorder Identified by Microarray.
Journal: Frontiers in genetics
Published: August 09, 2021
Showing 1-10 of 10
Last Updated: 09/26/2026