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

by Kanokwan Sriwattanapong, Kitiwan Rojnueangnit, Thanakorn Theerapanon, Chalurmpon Srichomthong, Thantrira Porntaveetus, Vorasuk Shotelersuk
Published 2021-02-01

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

by Kitiwan Rojnueangnit, Chariyawan Charalsawadi, Weerin Thammachote, Ariya Pradabmuksiri, Thipwimol Tim‐Aroon, Antonio Novelli, Sara Loddo, Silvana Briuglia, Cutrupi M. Concetta, Duangrurdee Wattanasirichaigoon, Natini Jinawath
Published 2019-09-01

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis

by Supranee Thongpradit, Natini Jinawath, Natini Jinawath, Asif Javed, Asif Javed, Laran T. Jensen, Issarapa Chunsuwan, Kitiwan Rojnueangnit, Thipwimol Tim-Aroon, Krisna Lertsukprasert, Meng-Shin Shiao, Nongnuch Sirachainan, Duangrurdee Wattanasirichaigoon
Published 2020-12-01

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

by 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
Published 2019-09-01