Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
6 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.
Arch Dis Child. 2021 Jan;106(1):31-37. doi: 10.1136/archdischild-2020-319180. Epub 2020 Aug 20.
Arch Dis Child. 2021.
PMID: 32819910
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes.
Wei H, Lai A, Tan ES, Koh MJA, Ng I, Ting TW, Thomas T, Cham B, Lim JY, Kam S, Goh CYJ, Lin G, Brett M, Chan D, Jamuar SS, Tan EC.
Wei H, et al. Among authors: goh cyj.
Arch Dis Child. 2021 Jan;106(1):38-43. doi: 10.1136/archdischild-2020-319177. Epub 2020 Sep 25.
Arch Dis Child. 2021.
PMID: 32978145
Item in Clipboard
DEGS1 -related leukodystrophy: a clinical report and review of literature.
Wong MST, Thomas T, Lim JY, Kam S, Teo JX, Ching J, Goh CYJ, Jamuar SS, Lim WK, Koh AL.
Wong MST, et al. Among authors: goh cyj.
Clin Dysmorphol. 2023 Jul 1;32(3):106-111. doi: 10.1097/MCD.0000000000000457. Epub 2023 May 1.
Clin Dysmorphol. 2023.
PMID: 37195341
Review.
Item in Clipboard
Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases.
Fong N, Wei H, Lim JY, Goh CJ, Kam S, Jamuar SS, Tan EC.
Fong N, et al.
Am J Med Genet A. 2022 Feb;188(2):672-675. doi: 10.1002/ajmg.a.62555. Epub 2021 Nov 4.
Am J Med Genet A. 2022.
PMID: 34738299
No abstract available.
Item in Clipboard
Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant.
Wei H, Krishnappa J, Lin G, Kavalloor N, Lim JY, Goh CJ, Jamuar SS, Thomas T, Tan EC.
Wei H, et al.
Am J Med Genet A. 2020 Mar;182(3):576-578. doi: 10.1002/ajmg.a.61444. Epub 2019 Dec 12.
Am J Med Genet A. 2020.
PMID: 31833200
No abstract available.
Item in Clipboard
Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.
Ting CY, Bhatia NS, Lim JY, Goh CJ, Vasanwala RF, Ong CC, Seow WT, Yeow VK, Ting TW, Ng IS, Jamuar SS.
Ting CY, et al.
Eur J Med Genet. 2020 Feb;63(2):103652. doi: 10.1016/j.ejmg.2019.04.009. Epub 2019 Apr 13.
Eur J Med Genet. 2020.
PMID: 30986546
Review.
Item in Clipboard
Cite
Cite