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Year | Number of Results |
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2010 | 1 |
2013 | 1 |
2014 | 1 |
2018 | 1 |
2024 | 0 |
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Review and update of mutations causing Waardenburg syndrome.
Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211.
Hum Mutat. 2010.
PMID: 20127975
Free article.
Review.
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.
Wildhardt G, Zirn B, Graul-Neumann LM, Wechtenbruch J, Suckfüll M, Buske A, Bohring A, Kubisch C, Vogt S, Strobl-Wildemann G, Greally M, Bartsch O, Steinberger D.
Wildhardt G, et al.
BMJ Open. 2013 Mar 18;3(3):e001917. doi: 10.1136/bmjopen-2012-001917.
BMJ Open. 2013.
PMID: 23512835
Free PMC article.
Item in Clipboard
PAX3 gene deletion detected by microarray analysis in a girl with hearing loss.
Drozniewska M, Haus O.
Drozniewska M, et al.
Mol Cytogenet. 2014 Apr 29;7:30. doi: 10.1186/1755-8166-7-30. eCollection 2014.
Mol Cytogenet. 2014.
PMID: 24839464
Free PMC article.
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Waardenburg syndrome: Novel mutations in a large Brazilian sample.
Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni-Netto RC.
Bocángel MAP, et al.
Eur J Med Genet. 2018 Jun;61(6):348-354. doi: 10.1016/j.ejmg.2018.01.012. Epub 2018 Jan 31.
Eur J Med Genet. 2018.
PMID: 29407415
Free article.
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