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Person

Prof.dr. J.M.J. Kremer

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Publications (87)

Update Persondata

Expertise	Molecular otogenetics; hereditary hearing impairment
Expertise (NL)	Moleculaire otogenetica; erfelijke slechthorendheid
Digital Author ID	info:eu-repo/dai/nl/08771583X

Active as

Professor
Organisation	Department of Ear Nose Throat (ENT) (RU)
Chair (EN)	Molecular otogenetics
Chair (NL)	Moleculaire otogenetica
Email	H. Kremer -at- antrg. umcn. nl

Researcher
Organisation	Nijmegen Centre for Molecular Life Sciences - NCMLS (RU)

Publications

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network.
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

All publications..

Classification

D21400	Genetics
D23232	Otorhinolaryngology

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