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 |
---|---|
2009 | 1 |
2011 | 3 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
NT5E mutations and arterial calcifications.
N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923.
N Engl J Med. 2011.
PMID: 21288095
Free PMC article.
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.
Cullinane AR, Vilboux T, O'Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C; NISC Comparative Sequencing Program; Markello TC, Gunay-Aygun M, Huizing M, Gahl WA.
Cullinane AR, et al.
J Invest Dermatol. 2011 Oct;131(10):2017-25. doi: 10.1038/jid.2011.157. Epub 2011 Jun 16.
J Invest Dermatol. 2011.
PMID: 21677667
Free PMC article.
Item in Clipboard
Free sialic acid storage disease without sialuria.
Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R.
Mochel F, et al.
Ann Neurol. 2009 Jun;65(6):753-7. doi: 10.1002/ana.21624.
Ann Neurol. 2009.
PMID: 19557856
Free PMC article.
Item in Clipboard
Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.
Pierson TM, Tart G, Adams D, Toro C, Golas G, Tifft C, Gahl W.
Pierson TM, et al.
Neuromuscul Disord. 2011 May;21(5):353-5. doi: 10.1016/j.nmd.2011.02.005. Epub 2011 Feb 25.
Neuromuscul Disord. 2011.
PMID: 21353777
Free PMC article.
Item in Clipboard
Cite
Cite