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 |
---|---|
2002 | 1 |
2009 | 1 |
2010 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
Am J Hum Genet. 2002 Dec;71(6):1320-9. doi: 10.1086/344695. Epub 2002 Nov 1.
Am J Hum Genet. 2002.
PMID: 12415512
Free PMC article.
Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder.
Paisán-Ruiz C, Scopes G, Lee P, Houlden H.
Paisán-Ruiz C, et al.
Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):993-7. doi: 10.1002/ajmg.b.30929.
Am J Med Genet B Neuropsychiatr Genet. 2009.
PMID: 19160445
Item in Clipboard
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.
Mahajan VB, Olney AH, Garrett P, Chary A, Dragan E, Lerner G, Murray J, Bassuk AG.
Mahajan VB, et al.
Am J Med Genet A. 2010 Nov;152A(11):2875-9. doi: 10.1002/ajmg.a.33621.
Am J Med Genet A. 2010.
PMID: 20799329
Free PMC article.
Item in Clipboard
Cite
Cite