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

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

A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficie...

بواسطة Pongpak Pongphitcha, Nongnuch Sirachainan, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Duantida Songdej, Duangrurdee Wattanasirichaigoon
منشور في 2022

Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia

بواسطة Natsumon Udomkittivorakul, Duangrurdee Wattanasirichaigoon, Wiparat Manuyakorn, Pongpak Pongphitcha, Arthaporn Khongkraparn, Padcha Tunlayadechanont, Nongnuch Sirachainan
منشور في 2022

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

بواسطة Kitiwan Rojnueangnit, Boonchu Sirichongkolthong, Ratthapon Wongwandee, Thanitchet Khetkham, Saisuda Noojarern, Arthaporn Khongkraparn, Duangrurdee Wattanasirichaigoon
منشور في 2020

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance

بواسطة Supranee Thongpradit, Natini Jinawath, Asif Javed, Saisuda Noojarern, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Krisna Lertsukprasert, Bhoom Suktitipat, Laran T. Jensen, Duangrurdee Wattanasirichaigoon
منشور في 2020

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

بواسطة Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Chulaluck Kuptanon, Khunton Wichajarn, Achara Sathienkijkanchai, Kanya Suphapeetiporn, Pimlak Charoenkwan, Adisak Tantiworawit, Naruwan Noentong, Duangrurdee Wattanasirichaigoon
منشور في 2022

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

بواسطة Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti
منشور في 2020