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 |
---|---|
2013 | 1 |
2020 | 1 |
2023 | 2 |
2024 | 0 |
PubMed for id: 1823996
4 results
Results by year
Filters applied: . Clear all
Page 1
Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant.
Am J Case Rep. 2023 Nov 29;24:e942377. doi: 10.12659/AJCR.942377.
Am J Case Rep. 2023.
PMID: 38019730
Free PMC article.
DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models.
Ütkür K, Mayer K, Khan M, Manivannan T, Schaffrath R, Brinkmann U.
Ütkür K, et al.
Dis Model Mech. 2023 Sep 1;16(9):dmm050207. doi: 10.1242/dmm.050207. Epub 2023 Sep 22.
Dis Model Mech. 2023.
PMID: 37675463
Free PMC article.
Item in Clipboard
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy.
Hawer H, Mendelsohn BA, Mayer K, Kung A, Malhotra A, Tuupanen S, Schleit J, Brinkmann U, Schaffrath R.
Hawer H, et al.
Eur J Hum Genet. 2020 Nov;28(11):1497-1508. doi: 10.1038/s41431-020-0668-y. Epub 2020 Jun 23.
Eur J Hum Genet. 2020.
PMID: 32576952
Free PMC article.
Item in Clipboard
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K.
Gripp KW, et al.
Am J Med Genet A. 2013 Oct;161A(10):2420-30. doi: 10.1002/ajmg.a.36098. Epub 2013 Aug 5.
Am J Med Genet A. 2013.
PMID: 23918763
Free PMC article.
Item in Clipboard
Cite
Cite