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 | 2 |
2011 | 1 |
2012 | 2 |
2014 | 1 |
2024 | 0 |
Search Results
5 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8.
Eur J Hum Genet. 2012.
PMID: 22317977
Free PMC article.
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE.
Girirajan S, et al. Among authors: platky k.
Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534. Epub 2010 Feb 14.
Nat Genet. 2010.
PMID: 20154674
Free PMC article.
Item in Clipboard
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG.
Stankiewicz P, et al. Among authors: platky k.
Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2.
Hum Mutat. 2012.
PMID: 21948486
Free PMC article.
Item in Clipboard
The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup.
Berry SA, Jurek AM, Anderson C, Bentler K; Region 4 Genetics Collaborative Priority 2 Workgroup.
Berry SA, et al.
Genet Med. 2010 Dec;12(12 Suppl):S215-9. doi: 10.1097/GIM.0b013e3181fe5d23.
Genet Med. 2010.
PMID: 21150367
Free article.
Item in Clipboard
Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.
Thapa M, Asamoah A, Gowans GC, Platky KC, Barch MJ, Mouchrani P, Rajakaruna C, Hersh JH.
Thapa M, et al. Among authors: platky kc.
Am J Med Genet A. 2014 Apr;164A(4):1069-74. doi: 10.1002/ajmg.a.36396. Epub 2014 Jan 23.
Am J Med Genet A. 2014.
PMID: 24459084
Item in Clipboard
Cite
Cite