Saisuda Noojarern

Rama 6 Road
Bangkok, 10400, Thailand

Last Updated: 09/26/2026

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Found 11 publications

Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review.

Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review.

Journal: Journal of human genetics

Published: April 09, 2025

Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.

Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.

Journal: Scientific reports

Published: March 17, 2025

Early neonatal death due to prenatally undiagnosed congenital subglottic stenosis in Noonan syndrome.

Early neonatal death due to prenatally undiagnosed congenital subglottic stenosis in Noonan syndrome.

Journal: BMC pregnancy and childbirth

Published: February 14, 2025

Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.

Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.

Journal: Orphanet journal of rare diseases

Published: December 30, 2023

A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability.

A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability.

Journal: American journal of medical genetics. Part A

Published: November 14, 2023

Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome.

Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome.

Journal: Frontiers in pediatrics

Published: February 15, 2022

Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1.

Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1.

Journal: Frontiers in genetics

Published: January 01, 2022

Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.

Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.

Journal: Orphanet journal of rare diseases

Published: August 09, 2021

DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.

DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.

Journal: Endocrine connections

Published: October 26, 2020

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.

Journal: Scientific reports

Published: April 18, 2020

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

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

Journal: Pediatric cardiology

Published: June 15, 2019

Showing 1-11 of 11

Last Updated: 09/26/2026