Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
European Journal of Pediatrics|October 23, 2013
Loeys-Dietz syndrome in a Southeast Asian Hospital: a case seriesTeck Wah Ting, Angeline Hwei Meeng Lai, Jonathan Tze Liang Choo, et al.
Journal of the Neurological Sciences|April 28, 2020
Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B geneSophie Lian, Teck Wah Ting, Angeline H M Lai, et al.
Gene|January 15, 2020
Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disordersChui-Sun Yap, Saumya Shekhar Jamuar, Angeline H M Lai, et al.
Asian Pacific Journal of Allergy and Immunology|February 17, 2020
Enzyme replacement therapy desensitization in a child with infantile onset Pompe diseaseTheresa Shu Wen Toh, Kok Wee Chong, Anne Eng Neo Goh, et al.
Frontiers in Endocrinology|October 18, 2021
MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case ReportXinyi Chin, Aravind Venkatesh Sreedharan, Ene Choo Tan, et al.
Pediatric Cardiology|June 26, 2015
Left Ventricular Non-compaction: Is It Genetic?Teck Wah Ting, Saumya Shekhar Jamuar, Maggie Siewyan Brett, et al.
European Journal of Medical Genetics|April 16, 2019
Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literatureChun Yi Ting, Neha Singh Bhatia, Jiin Ying Lim, et al.
Archives of Disease in Childhood|September 26, 2020
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypesHeming Wei, Angeline Lai, Ee Shien Tan, et al.
Scientific Reports|February 29, 2024
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseasesDaniel Moynihan, Sean Monaco, Teck Wah Ting, et al.
Biodiversity Data Journal|March 6, 2020
Craspedotropis gretathunbergae, a new species of Cyclophoridae (Gastropoda: Caenogastropoda), discovered and described on a field course to Kuala Belalong rainforest, BruneiMenno Schilthuizen, Jonathan P Lim, Anthonie D P van Peursen, et al.
Pageof 2