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Year | Number of Results |
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2005 | 1 |
2007 | 2 |
2010 | 2 |
2011 | 1 |
2024 | 0 |
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6 results
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Page 1
Temporal bone abnormalities in children with GJB2 mutations.
Laryngoscope. 2011 Mar;121(3):630-5. doi: 10.1002/lary.21414. Epub 2011 Feb 4.
Laryngoscope. 2011.
PMID: 21298644
Free PMC article.
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
Kothiyal P, Cox S, Ebert J, Husami A, Kenna MA, Greinwald JH, Aronow BJ, Rehm HL.
Kothiyal P, et al.
BMC Biotechnol. 2010 Feb 10;10:10. doi: 10.1186/1472-6750-10-10.
BMC Biotechnol. 2010.
PMID: 20146813
Free PMC article.
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Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.
Kenna MA, Feldman HA, Neault MW, Frangulov A, Wu BL, Fligor B, Rehm HL.
Kenna MA, et al.
Arch Otolaryngol Head Neck Surg. 2010 Jan;136(1):81-7. doi: 10.1001/archoto.2009.202.
Arch Otolaryngol Head Neck Surg. 2010.
PMID: 20083784
Free PMC article.
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A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I.
Putcha GV, et al.
Genet Med. 2007 Jul;9(7):413-26.
Genet Med. 2007.
PMID: 17666888
Free article.
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Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?
Kenna MA, Rehm HL, Robson CD, Frangulov A, McCallum J, Yaeger D, Krantz ID.
Kenna MA, et al.
Am J Med Genet A. 2007 Jul 15;143A(14):1560-6. doi: 10.1002/ajmg.a.31706.
Am J Med Genet A. 2007.
PMID: 17455295
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GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G.
Snoeckx RL, et al.
Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19.
Am J Hum Genet. 2005.
PMID: 16380907
Free PMC article.
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