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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2003 | 2 |
2004 | 1 |
2013 | 1 |
2014 | 1 |
2024 | 0 |
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The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.
Pediatr Res. 2004 Jun;55(6):995-1000. doi: 10.1203/01.PDR.0000125258.58267.56. Epub 2004 Mar 17.
Pediatr Res. 2004.
PMID: 15028842
In the Ashkenazi Jewish population, the R245X mutation of the PCDH15 gene may be the most common cause of USH1 (Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RK, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB N Engl J …
In the Ashkenazi Jewish population, the R245X mutation of the PCDH15 gene may be the most common cause of USH1 (Ben-Yosef T, Ness SL, …
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB.
Ben-Yosef T, et al.
N Engl J Med. 2003 Apr 24;348(17):1664-70. doi: 10.1056/NEJMoa021502.
N Engl J Med. 2003.
PMID: 12711741
Free article.
No abstract available.
Item in Clipboard
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.
Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Avraham KB, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Griffith AJ.
Ness SL, et al.
J Med Genet. 2003 Oct;40(10):767-72. doi: 10.1136/jmg.40.10.767.
J Med Genet. 2003.
PMID: 14569126
Free PMC article.
No abstract available.
Item in Clipboard
The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry.
Behar DM, Davidov B, Brownstein Z, Ben-Yosef T, Avraham KB, Shohat M.
Behar DM, et al.
Genet Test Mol Biomarkers. 2014 Feb;18(2):123-6. doi: 10.1089/gtmb.2013.0328. Epub 2013 Dec 24.
Genet Test Mol Biomarkers. 2014.
PMID: 24367894
Free PMC article.
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