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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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2016 | 1 |
2018 | 1 |
2019 | 1 |
2020 | 1 |
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2024 | 0 |
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Page 1
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.
Hum Genet. 2016.
PMID: 26969326
Free PMC article.
The etiological evaluation of sensorineural hearing loss in children.
van Beeck Calkoen EA, Engel MSD, van de Kamp JM, Yntema HG, Goverts ST, Mulder MF, Merkus P, Hensen EF.
van Beeck Calkoen EA, et al.
Eur J Pediatr. 2019 Aug;178(8):1195-1205. doi: 10.1007/s00431-019-03379-8. Epub 2019 May 31.
Eur J Pediatr. 2019.
PMID: 31152317
Free PMC article.
Item in Clipboard
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
Wesdorp M, Schreur V, Beynon AJ, Oostrik J, van de Kamp JM, Elting MW, van den Boogaard MH, Feenstra I, Admiraal RJC, Kunst HPM, Hoyng CB, Kremer H, Yntema HG, Pennings RJE, Schraders M.
Wesdorp M, et al.
Clin Genet. 2018 Aug;94(2):221-231. doi: 10.1111/cge.13368. Epub 2018 Jun 8.
Clin Genet. 2018.
PMID: 29676012
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Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.
Yu S, Chen WX, Zhang YF, Chen C, Ni Y, Duan B, Wang H, Xu ZM.
Yu S, et al.
Int J Pediatr Otorhinolaryngol. 2021 Jun;145:110715. doi: 10.1016/j.ijporl.2021.110715. Epub 2021 Apr 20.
Int J Pediatr Otorhinolaryngol. 2021.
PMID: 33892339
Review.
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Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.
Safka Brozkova D, Poisson Marková S, Mészárosová AU, Jenčík J, Čejnová V, Čada Z, Laštůvková J, Rašková D, Seeman P.
Safka Brozkova D, et al.
Clin Genet. 2020 Dec;98(6):548-554. doi: 10.1111/cge.13839. Epub 2020 Sep 27.
Clin Genet. 2020.
PMID: 32860223
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