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
4 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Publication Date timeline is not available.
Page 1
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
Matrix Biol. 2019 Aug;81:91-106. doi: 10.1016/j.matbio.2018.11.006. Epub 2018 Nov 18.
Matrix Biol. 2019.
PMID: 30463024
Free article.
Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.
Shadmehri AA, Fattahi N, Pourreza MR, Koohiyan M, Zarifi S, Darbouy M, Sharifi R, Tavakkoly Bazzaz J, Tabatabaiefar MA.
Shadmehri AA, et al.
J Cell Biochem. 2019 Mar;120(3):3367-3372. doi: 10.1002/jcb.27607. Epub 2018 Sep 11.
J Cell Biochem. 2019.
PMID: 30203563
Item in Clipboard
Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
Haghighi A, Rezazadeh J, Shadmehri AA, Haghighi A, Kornreich R, Desnick RJ.
Haghighi A, et al. Among authors: shadmehri aa.
J Hum Genet. 2011 Sep;56(9):682-4. doi: 10.1038/jhg.2011.78. Epub 2011 Jul 28.
J Hum Genet. 2011.
PMID: 21796138
Item in Clipboard
Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability.
Parsamanesh N, Safarpour H, Etesam S, Shadmehri AA, Miri-Moghaddam E.
Parsamanesh N, et al. Among authors: shadmehri aa.
J Mol Neurosci. 2019 Dec;69(4):538-545. doi: 10.1007/s12031-019-01376-y. Epub 2019 Aug 14.
J Mol Neurosci. 2019.
PMID: 31414351
Item in Clipboard
Cite
Cite
ARTICLE TYPE
ARTICLE LANGUAGE
AGE
Filters on the sidebar will be reset to the default list and any currently applied filters will be cleared.