Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

9 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
LOVD v.2.0: the next generation in gene variant databases.
Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. Fokkema IF, et al. Among authors: schaafsma gc. Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22. Hum Mutat. 2011. PMID: 21520333
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L. Bower M, et al. Among authors: schaafsma gc. Hum Mutat. 2012 Mar;33(3):457-66. doi: 10.1002/humu.22020. Epub 2012 Jan 31. Hum Mutat. 2012. PMID: 22213154
Representativeness of variation benchmark datasets.
Schaafsma GCP, Vihinen M. Schaafsma GCP, et al. BMC Bioinformatics. 2018 Nov 29;19(1):461. doi: 10.1186/s12859-018-2478-6. BMC Bioinformatics. 2018. PMID: 30497376 Free PMC article.