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 |
---|---|
2016 | 1 |
2017 | 1 |
2019 | 2 |
2020 | 1 |
2024 | 0 |
PubMed (cited) for id: 618870
3 results
Results by year
Filters applied: . Clear all
Page 1
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Hum Mutat. 2020 Mar;41(3):655-667. doi: 10.1002/humu.23952. Epub 2019 Dec 3.
Hum Mutat. 2020.
PMID: 31705726
Free PMC article.
Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M.
Meyer R, et al.
Bone. 2019 Oct;127:446-451. doi: 10.1016/j.bone.2019.07.016. Epub 2019 Jul 17.
Bone. 2019.
PMID: 31325655
Item in Clipboard
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.
Vodopiutz J, Mizumoto S, Lausch E, Rossi A, Unger S, Janocha N, Costantini R, Seidl R, Greber-Platzer S, Yamada S, Müller T, Jilma B, Ganger R, Superti-Furga A, Ikegawa S, Sugahara K, Janecke AR.
Vodopiutz J, et al.
Hum Mutat. 2017 Jan;38(1):34-38. doi: 10.1002/humu.23070. Epub 2016 Sep 22.
Hum Mutat. 2017.
PMID: 27599773
Item in Clipboard
Cite
Cite