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 |
---|---|
2010 | 1 |
2011 | 1 |
2012 | 2 |
2013 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30.
Hum Mutat. 2013.
PMID: 23504663
Free PMC article.
Review.
Detecting false-positive signals in exome sequencing.
Fuentes Fajardo KV, Adams D; NISC Comparative Sequencing Program; Mason CE, Sincan M, Tifft C, Toro C, Boerkoel CF, Gahl W, Markello T.
Fuentes Fajardo KV, et al.
Hum Mutat. 2012 Apr;33(4):609-13. doi: 10.1002/humu.22033. Epub 2012 Mar 5.
Hum Mutat. 2012.
PMID: 22294350
Free PMC article.
Item in Clipboard
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D.
Gahl WA, et al.
Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26.
Genet Med. 2012.
PMID: 22237431
Free PMC article.
Item in Clipboard
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
Manoli I, Golas G, Westbroek W, Vilboux T, Markello TC, Introne W, Maynard D, Pederson B, Tsilou E, Jordan MB, Hart PS, White JG, Gahl WA, Huizing M.
Manoli I, et al.
Am J Med Genet A. 2010 Jun;152A(6):1474-83. doi: 10.1002/ajmg.a.33389.
Am J Med Genet A. 2010.
PMID: 20503323
Free PMC article.
Item in Clipboard
Cite
Cite