Last Updated: 09/26/2026
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Found 16 publications
The phenotypic landscape of p.Ala117Ser transthyretin amyloidosis: distinct clinical profiles and outcomes versus wild-type ATTR.
Journal: BMC cardiovascular disorders
Published: September 03, 2025
Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
Journal: BMC medical genomics
Published: August 06, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Journal: medRxiv : the preprint server for health sciences
Published: July 28, 2023
Levodopa-induced dyskinesia in early-onset Parkinson's disease (EOPD) associates with glucocerebrosidase mutation: A next-generation sequencing study in EOPD patients in Thailand.
Journal: PloS one
Published: September 21, 2022
Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.
Journal: Clinical genetics
Published: March 28, 2021
Lynch Syndrome in Thai Endometrial Cancer Patients.
Journal: Asian Pacific journal of cancer prevention : APJCP
Published: January 27, 2021
Multiple lentigines in RASA1-associated capillary malformation-arteriovenous malformation syndrome.
Journal: JAAD case reports
Published: December 15, 2020
Novel DDX41 variants in Thai patients with myeloid neoplasms.
Journal: International journal of hematology
Published: September 12, 2019
Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer.
Journal: World journal of clinical oncology
Published: March 02, 2019
Synergistic heterozygosities beyond energy-related metabolic pathways as the mechanism of recurrent rhabdomyolysis.
Journal: Molecular genetics and metabolism reports
Published: January 02, 2019
Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists.
Journal: Clinical and molecular hepatology
Published: December 24, 2018
Last Updated: 09/26/2026