A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

Bas P. Hartel; Maria Lofgren; Patrick L. M. Huygen; Iris Guchelaar; Nicole Lo-A-Njoe Kort; Andre M. Sadeghi; Erwin van Wijki; Lisbeth Tranebjaerg; Hannie Kremer; William J. Kimberling; Cor W. R. J. Cremers; Claes Moller; Ronald J. E. Pennings

doi:10.1016/j.heares.2016.06.008

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

Bas P. Hartel, Maria Lofgren, Patrick L. M. Huygen, Iris Guchelaar, Nicole Lo-A-Njoe Kort, Andre M. Sadeghi, Erwin van Wijki, Lisbeth Tranebjaerg, Hannie Kremer, William J. Kimberling, Cor W. R. J. Cremers, Claes Moller, Ronald J. E. Pennings

17 Citations (Scopus)

Original language	English
Journal	Hearing Research
Volume	339
Pages (from-to)	60-68
ISSN	0378-5955
DOIs	https://doi.org/10.1016/j.heares.2016.06.008
Publication status	Published - 1 Sept 2016

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Hartel, B. P., Lofgren, M., Huygen, P. L. M., Guchelaar, I., Kort, N. L.-A.-N., Sadeghi, A. M., van Wijki, E., Tranebjaerg, L., Kremer, H., Kimberling, W. J., Cremers, C. W. R. J., Moller, C., & Pennings, R. J. E. (2016). A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. Hearing Research, 339, 60-68. https://doi.org/10.1016/j.heares.2016.06.008

Hartel, BP, Lofgren, M, Huygen, PLM, Guchelaar, I, Kort, NL-A-N, Sadeghi, AM, van Wijki, E, Tranebjaerg, L, Kremer, H, Kimberling, WJ, Cremers, CWRJ, Moller, C & Pennings, RJE 2016, 'A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa', Hearing Research, vol. 339, pp. 60-68. https://doi.org/10.1016/j.heares.2016.06.008

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title = "A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa",

author = "Hartel, {Bas P.} and Maria Lofgren and Huygen, {Patrick L. M.} and Iris Guchelaar and Kort, {Nicole Lo-A-Njoe} and Sadeghi, {Andre M.} and {van Wijki}, Erwin and Lisbeth Tranebjaerg and Hannie Kremer and Kimberling, {William J.} and Cremers, {Cor W. R. J.} and Claes Moller and Pennings, {Ronald J. E.}",

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AU - Hartel, Bas P.

AU - Lofgren, Maria

AU - Huygen, Patrick L. M.

AU - Guchelaar, Iris

AU - Kort, Nicole Lo-A-Njoe

AU - Sadeghi, Andre M.

AU - van Wijki, Erwin

AU - Tranebjaerg, Lisbeth

AU - Kremer, Hannie

AU - Kimberling, William J.

AU - Cremers, Cor W. R. J.

AU - Moller, Claes

AU - Pennings, Ronald J. E.

PY - 2016/9/1

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DO - 10.1016/j.heares.2016.06.008

M3 - Journal article

C2 - 27318125

SN - 0378-5955

VL - 339

SP - 60

EP - 68

JO - Hearing Research

JF - Hearing Research

ER -

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

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