Kunst HH - Search Results

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Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13).

De Leenheer EM, Kunst HH, McGuirt WT, Prasad SD, Brown MR, Huygen PL, Smith RJ, Cremers CW. De Leenheer EM, et al. Among authors: kunst hh. Arch Otolaryngol Head Neck Surg. 2001 Jan;127(1):13-7. doi: 10.1001/archotol.127.1.13. Arch Otolaryngol Head Neck Surg. 2001. PMID: 11177008

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.

Verver E, Pecci A, De Rocco D, Ryhänen S, Barozzi S, Kunst H, Topsakal V, Savoia A. Verver E, et al. Clin Genet. 2015 Jul;88(1):85-9. doi: 10.1111/cge.12438. Epub 2014 Jul 26. Clin Genet. 2015. PMID: 24890873 Free article.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.

Rendtorff ND, Karstensen HG, Lodahl M, Tolmie J, McWilliam C, Bak M, Tommerup N, Nazaryan-Petersen L, Kunst H, Wong M, Joss S, Carelli V, Tranebjærg L. Rendtorff ND, et al. Sci Rep. 2022 Sep 2;12(1):14959. doi: 10.1038/s41598-022-18040-y. Sci Rep. 2022. PMID: 36056138 Free PMC article.

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