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
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 1 |
2022 | 3 |
2023 | 1 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.
Eur J Med Genet. 2023 Oct;66(10):104829. doi: 10.1016/j.ejmg.2023.104829. Epub 2023 Aug 30.
Eur J Med Genet. 2023.
PMID: 37657630
Free article.
Novel hemizygous loss-of-function variant in NONO identified in a South African boy.
Coetzer KC, Moosa S.
Coetzer KC, et al.
Am J Med Genet A. 2022 Jan;188(1):373-376. doi: 10.1002/ajmg.a.62509. Epub 2021 Sep 22.
Am J Med Genet A. 2022.
PMID: 34549882
Item in Clipboard
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Hsieh TC, Bar-Haim A, Moosa S, Ehmke N, Gripp KW, Pantel JT, Danyel M, Mensah MA, Horn D, Rosnev S, Fleischer N, Bonini G, Hustinx A, Schmid A, Knaus A, Javanmardi B, Klinkhammer H, Lesmann H, Sivalingam S, Kamphans T, Meiswinkel W, Ebstein F, Krüger E, Küry S, Bézieau S, Schmidt A, Peters S, Engels H, Mangold E, Kreiß M, Cremer K, Perne C, Betz RC, Bender T, Grundmann-Hauser K, Haack TB, Wagner M, Brunet T, Bentzen HB, Averdunk L, Coetzer KC, Lyon GJ, Spielmann M, Schaaf CP, Mundlos S, Nöthen MM, Krawitz PM.
Hsieh TC, et al. Among authors: coetzer kc.
Nat Genet. 2022 Mar;54(3):349-357. doi: 10.1038/s41588-021-01010-x. Epub 2022 Feb 10.
Nat Genet. 2022.
PMID: 35145301
Free PMC article.
Item in Clipboard
Undiagnosed disease program in South Africa: Results from first 100 exomes.
Moosa S, Coetzer KC, Lee E, Seo GH.
Moosa S, et al. Among authors: coetzer kc.
Am J Med Genet A. 2022 Sep;188(9):2684-2692. doi: 10.1002/ajmg.a.62847. Epub 2022 May 26.
Am J Med Genet A. 2022.
PMID: 35616356
Item in Clipboard
Cite
Cite