Ghent University Academic Bibliography

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- Conference Paper
- C1
Management of hearing loss: surgery (incudostapedotomy and malleostapedotomy) and outcome of the procedure

Cor Cremers, Freya Swinnen (UGent) , Els De Leenheer (UGent) , Paul Coucke (UGent) and Ingeborg Dhooge (UGent)

(2008) Proceedings of the 10th International Conference on Osteogenesis Imperfecta.
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- Conference Paper
- C3
Audiologic and genetic characterization of hearing loss in Osteogenesis Imperfecta

Freya Swinnen (UGent) , Els De Leenheer (UGent) , Stefan Goemaere (UGent) , Anne De Paepe (UGent) , C CREMERS, Paul Coucke (UGent) and Ingeborg Dhooge (UGent)

(2008) 10th International Conference on Osteogenesis Imperfecta: Programme and Abstract Book. p.81-81
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- Journal Article
- A2
DFNA2/KCNQ4 and its manifestations.

Els De Leenheer (UGent) , RJ ENSINK, HP KUNST, HA MARRES, Z TALEBIZADEH, F DECLAU, SD SMITH, S USAMI, PH VAN DE HEYNING, G VAN CAMP, et al.

(2006) ADVANCES IN OTO-RHINO-LARYNGOLOGY. 61. p.41-46
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- Journal Article
- A1
A novel mutation identified in the DFNA5 gene in a Dutch family: A clinical and genetic evaluation

AMLC Bischoff, MWJ Luijendijk, PLM Huygen, G van Duijnhoven, Els De Leenheer (UGent) , GG Oudesluijs, Lut Van Laer (UGent) , FPM Cremers, CWRJ Cremers and H Kremer

(2004) AUDIOLOGY AND NEURO-OTOLOGY. 9(1). p.34-46
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- Book Chapter
Clinical features of DFNA5

Els De Leenheer (UGent) , Diederick A. van Zuijlen, Lut Van Laer (UGent) , Guy Van Camp, Patrick L.M. Huygen, Egbert H. Huizing and Cor W.R.J. Cremers

(2002) Genetic Hearing Impairment: its clinical presentations. In Advances in Oto-Rhino-Laryngology 61. p.53-59
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- Journal Article
- A2
The phenotype of DFNA13/COL11A2.

Els De Leenheer (UGent) , WT MCGUIRT, HP KUNST, PL HUYGEN, RJ SMITH and CW CREMERS

(2002) ADVANCES IN OTO-RHINO-LARYNGOLOGY. 61. p.85-91
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- Journal Article
- A2
DFNA10/EYA4 - the clinical picture.

Els De Leenheer (UGent) , PL HUYGEN, S WAYNE, M VERSTREKEN, F DECLAU, G VAN CAMP, PH VAN DE HEYNING, RJ SMITH and CW CREMERS

(2002) ADVANCES IN OTO-RHINO-LARYNGOLOGY. 61. p.73-78
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- Journal Article
- A1
Further delineation of the DFNA5 phenotype: Results of speech recognition tests

Els De Leenheer (UGent) , DA VAN ZUIJLEN, Lut Van Laer (UGent) , G VAN CAMP, P HUYGEN, EH HUIZING and C CREMERS

(2002) ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY. 111(7). p.639-641
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Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families

Zahid H Shah, Marina Toompuu, Terhi Hakkinen, Anja T Rovio, Conny van Ravenswaay, Els De Leenheer (UGent) , Richard JH Smith, Frans PM Cremers, Cor WRJ Cremers and Howard T Jacobs

(2001) HUMAN MUTATION. 17(5). p.433-434

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Academic Bibliography

Management of hearing loss: surgery (incudostapedotomy and malleostapedotomy) and outcome of the procedure

Audiologic and genetic characterization of hearing loss in Osteogenesis Imperfecta

DFNA2/KCNQ4 and its manifestations.

A novel mutation identified in the DFNA5 gene in a Dutch family: A clinical and genetic evaluation

Clinical features of DFNA5

The phenotype of DFNA13/COL11A2.

DFNA10/EYA4 - the clinical picture.

Further delineation of the DFNA5 phenotype: Results of speech recognition tests

Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families

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