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
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Hepatic Involvement in Aicardi-Goutières Syndrome.
Neuropediatrics. 2021 Dec;52(6):441-447. doi: 10.1055/s-0040-1722673. Epub 2021 Jan 14.
Neuropediatrics. 2021.
PMID: 33445189
Free PMC article.
Aicardi goutières syndrome is associated with pulmonary hypertension.
Adang LA, Frank DB, Gilani A, Takanohashi A, Ulrick N, Collins A, Cross Z, Galambos C, Helman G, Kanaan U, Keller S, Simon D, Sherbini O, Hanna BD, Vanderver AL.
Adang LA, et al.
Mol Genet Metab. 2018 Dec;125(4):351-358. doi: 10.1016/j.ymgme.2018.09.004. Epub 2018 Sep 7.
Mol Genet Metab. 2018.
PMID: 30219631
Free PMC article.
Item in Clipboard
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
Helman G, Takanohashi A, Hagemann TL, Perng MD, Walkiewicz M, Woidill S, Sase S, Cross Z, Du Y, Zhao L, Waldman A, Haake BC, Fatemi A, Brenner M, Sherbini O, Messing A, Vanderver A, Simons C.
Helman G, et al.
Hum Mutat. 2020 Jun;41(6):1131-1137. doi: 10.1002/humu.24008. Epub 2020 Mar 11.
Hum Mutat. 2020.
PMID: 32126152
Free PMC article.
Item in Clipboard
Brain white matter abnormalities associated with copy number variants.
Vigdorovich N, Ben-Sira L, Blumkin L, Precel R, Nezer I, Yosovich K, Cross Z, Vanderver A, Lev D, Lerman-Sagie T, Zerem A.
Vigdorovich N, et al.
Am J Med Genet A. 2020 Jan;182(1):93-103. doi: 10.1002/ajmg.a.61389. Epub 2019 Oct 17.
Am J Med Genet A. 2020.
PMID: 31622028
Item in Clipboard
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
Helman G, Takanohashi A, Hagemann TL, Perng MD, Walkiewicz M, Woidill S, Sase S, Cross Z, Du Y, Zhao L, Waldman A, Haake BC, Fatemi A, Brenner M, Sherbini O, Messing A, Vanderver A, Simons C.
Helman G, et al.
Hum Mutat. 2022 Sep;43(9):1344. doi: 10.1002/humu.24400.
Hum Mutat. 2022.
PMID: 35920398
No abstract available.
Item in Clipboard
Cite
Cite