Hannie Kremer

Hannie Kremer

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Hannie Kremer

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Hereditary hearing loss; about the known and the unknown.

Authors:
Hannie Kremer

Hear Res 2019 May 10;376:58-68. Epub 2019 Jan 10.

Hearing & Genes Division, Department of Otorhinolaryngology and Department of Human Genetics, Donders Institute of Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.heares.2019.01.003DOI Listing
May 2019

Antisense Oligonucleotide Design and Evaluation of Splice-Modulating Properties Using Cell-Based Assays.

Methods Mol Biol 2018 ;1828:519-530

Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://link.springer.com/10.1007/978-1-4939-8651-4_34
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http://dx.doi.org/10.1007/978-1-4939-8651-4_34DOI Listing
April 2019

Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A>G Mutation in USH2A.

Zebrafish 2018 12 3;15(6):597-609. Epub 2018 Oct 3.

1 Department of Otorhinolaryngology, Radboud University Medical Center , Nijmegen, the Netherlands .

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http://dx.doi.org/10.1089/zeb.2018.1613DOI Listing
December 2018

Homozygous variants in , encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

J Med Genet 2018 10 17;55(10):705-712. Epub 2018 Aug 17.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2018-105364DOI Listing
October 2018

Usherin defects lead to early-onset retinal dysfunction in zebrafish.

Exp Eye Res 2018 08 16;173:148-159. Epub 2018 May 16.

Department of Otorhinolaryngology, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands; Donders Institute for Brain, Cognition, and Behavior, Montessorilaan 3, 6525 HR Nijmegen, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00144835183024
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http://dx.doi.org/10.1016/j.exer.2018.05.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054812PMC
August 2018

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Am J Hum Genet 2018 07 28;103(1):74-88. Epub 2018 Jun 28.

Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037131PMC
July 2018

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.

Hear Res 2017 04 12;347:56-62. Epub 2017 Jan 12.

Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.heares.2016.12.017DOI Listing
April 2017

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.

Ear Hear 2016 Jan-Feb;37(1):103-11

1Department of Otorhinolaryngology, Head and Neck Surgery, Radboud university medical center, Nijmegen, The Netherlands; 2Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; 3Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; 4Donders Institute for Brain, Cognition and Behavior, Radboud University, Nijmegen, The Netherlands; 5Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands; and 6Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/AUD.0000000000000217DOI Listing
September 2016

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

Hear Res 2016 09 16;339:60-8. Epub 2016 Jun 16.

Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.heares.2016.06.008DOI Listing
September 2016

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.

Ear Hear 2015 Mar-Apr;36(2):205-11

1Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands; 2Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; 3Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; 4Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; 5Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands; and 6Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/AUD.0000000000000095DOI Listing
May 2016

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

PLoS Genet 2015 Oct 20;11(10):e1005575. Epub 2015 Oct 20.

Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands.

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http://dx.doi.org/10.1371/journal.pgen.1005575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617701PMC
October 2015

Similar phenotypes caused by mutations in OTOG and OTOGL.

Ear Hear 2014 May-Jun;35(3):e84-91

1Department of Otorhinolaryngology, Hearing & Genes, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 2Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands; 3Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 4Programa de Medicina Molecular i Genètica, Hospital Vall d'Hebron, Barcelona, Spain; 5Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain; 6Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; 7Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain; 8John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA; 9Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miami, Florida, USA; 10Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey; and 11Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1097/AUD.0000000000000008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999258PMC
February 2015

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.

Eur J Hum Genet 2015 Feb 30;23(2):189-94. Epub 2014 Apr 30.

1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2014.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297911PMC
February 2015

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

Ann Otol Rhinol Laryngol 2014 Dec 24;123(12):859-65. Epub 2014 Jun 24.

Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Centre, Nijmegen, the Netherlands Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1177/0003489414539130DOI Listing
December 2014

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.

J Hum Genet 2014 Dec 9;59(12):683-6. Epub 2014 Oct 9.

1] Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/jhg.2014.86DOI Listing
December 2014

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.

Hum Mol Genet 2014 Aug 8;23(15):3923-42. Epub 2014 Mar 8.

Cell and Matrix Biology, Institute of Zoology, Focus Program Translational Neurosciences (FTN), Johannes Gutenberg University of Mainz, 55122 Mainz, Germany

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http://dx.doi.org/10.1093/hmg/ddu104DOI Listing
August 2014

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

Am J Hum Genet 2014 Aug 10;95(2):131-42. Epub 2014 Jul 10.

Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129401PMC
August 2014

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

J Hum Genet 2013 Dec 31;58(12):819-21. Epub 2013 Oct 31.

1] Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/jhg.2013.101DOI Listing
December 2013

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

J Assoc Res Otolaryngol 2011 Dec 23;12(6):753-66. Epub 2011 Jul 23.

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1007/s10162-011-0282-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214237PMC
December 2011

Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina.

Biochim Biophys Acta 2011 Oct 13;1813(10):1883-92. Epub 2011 Jul 13.

Institute of Zoology, Cell and Matrix Biology, Johannes Gutenberg University of Mainz, Mainz, Germany.

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http://dx.doi.org/10.1016/j.bbamcr.2011.05.015DOI Listing
October 2011

CLRN1 mutations cause nonsyndromic retinitis pigmentosa.

Ophthalmology 2011 Jul 18;118(7):1444-8. Epub 2011 Feb 18.

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://dx.doi.org/10.1016/j.ophtha.2010.10.047DOI Listing
July 2011

Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

Audiol Neurootol 2011 26;16(2):93-105. Epub 2010 Jun 26.

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1159/000313282DOI Listing
April 2011

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

Nat Commun 2011 Feb 15;2:201. Epub 2011 Feb 15.

Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1038/ncomms1200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3105340PMC
February 2011

SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma.

Clin Cancer Res 2011 Jan 11;17(2):247-54. Epub 2011 Jan 11.

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1158/1078-0432.CCR-10-0420DOI Listing
January 2011

Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network.

Invest Ophthalmol Vis Sci 2010 May 3;51(5):2338-46. Epub 2009 Dec 3.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.09-4650DOI Listing
May 2010

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

Am J Hum Genet 2010 Apr 25;86(4):604-10. Epub 2010 Mar 25.

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2010.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2850434PMC
April 2010

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

Am J Hum Genet 2010 Feb 4;86(2):138-47. Epub 2010 Feb 4.

Department of Otorhinolaryngology, Head and Neck Surgery, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2009.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820176PMC
February 2010

Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.

Audiol Neurootol 2009 15;14(5):303-7. Epub 2009 Apr 15.

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, NL-6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1159/000212109DOI Listing
October 2009

Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.

Ann Otol Rhinol Laryngol 2009 May;118(5):382-90

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1177/000348940911800511DOI Listing
May 2009

Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.

Ann Otol Rhinol Laryngol 2009 Apr;118(4):313-20

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1177/000348940911800413DOI Listing
April 2009

Positional cloning of deafness genes.

Methods Mol Biol 2009 ;493:215-38

Department of Otorhinolaryngology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/978-1-59745-523-7_13DOI Listing
January 2009

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.

Eur J Hum Genet 2008 Dec 25;16(12):1430-6. Epub 2008 Jun 25.

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2008.110DOI Listing
December 2008

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

Arch Otolaryngol Head Neck Surg 2008 Mar;134(3):294-300

Department of Otorhinolaryngology, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1001/archotol.134.3.294DOI Listing
March 2008

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.

Int J Pediatr Otorhinolaryngol 2008 Feb 19;72(2):249-55. Epub 2007 Nov 19.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1016/j.ijporl.2007.09.023DOI Listing
February 2008

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.

Hum Mol Genet 2008 Jan 28;17(1):71-86. Epub 2007 Sep 28.

Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55099 Mainz, Germany.

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http://dx.doi.org/10.1093/hmg/ddm285DOI Listing
January 2008

Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.

Am J Ophthalmol 2007 May 19;143(5):847-852. Epub 2007 Mar 19.

Department of Otorhinolaryngology--Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajo.2007.01.037DOI Listing
May 2007

Phenotype description of a novel DFNA9/COCH mutation, I109T.

Ann Otol Rhinol Laryngol 2007 May;116(5):349-57

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1177/000348940711600506DOI Listing
May 2007

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.

Audiol Neurootol 2007 6;12(2):77-84. Epub 2006 Dec 6.

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1159/000097794DOI Listing
February 2007

Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts.

Mol Diagn Ther 2006 ;10(3):197-204

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/BF03256458DOI Listing
October 2006

Usher syndrome: molecular links of pathogenesis, proteins and pathways.

Hum Mol Genet 2006 Oct;15 Spec No 2:R262-70

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddl205DOI Listing
October 2006

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.

J Assoc Res Otolaryngol 2006 Jun 25;7(2):173-81. Epub 2006 Apr 25.

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10162-006-0033-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2504577PMC
June 2006

Cochleovestibular and ocular features in a Dutch DFNA11 family.

Otol Neurotol 2006 Apr;27(3):323-31

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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April 2006

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.

Neuromuscul Disord 2006 Feb 19;16(2):122-5. Epub 2006 Jan 19.

Department of Neurology, Radboud University Nijmegen Medical Centre, 326, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660500317
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http://dx.doi.org/10.1016/j.nmd.2005.11.003DOI Listing
February 2006

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.

Hum Mol Genet 2005 Dec 21;14(24):3933-43. Epub 2005 Nov 21.

Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Germany.

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http://dx.doi.org/10.1093/hmg/ddi417DOI Listing
December 2005

Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers.

Otol Neurotol 2005 Sep;26(5):918-25

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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September 2005

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.

Otol Neurotol 2005 Sep;26(5):926-33

Otorhinolaryngology, Radboud University Medical Center Nijmegen, Nijmegen, The Netherlands.

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September 2005

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.

Hear Res 2005 May;203(1-2):88-93

Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.heares.2004.11.022DOI Listing
May 2005

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

Otol Neurotol 2005 Jan;26(1):52-8

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, The Netherlands.

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January 2005