A. Karaguzel

发表

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2–q13.4

C. Cremers, H. Brunner, H. Kremer, 2007, Journal of Molecular Medicine.

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

C. Cremers, T. Strom, A. D. den Hollander, 2007, Human mutation.

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

H. Kremer, A. Brouwer, E. Kalay, 2005, Hearing Research.

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome

H. G. Brunner, C. Cremers, S. Nabuurs, 2005, Journal of Molecular Medicine.

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation

C. Cremers, E. Krieger, H. Brunner, 2007, American Journal of Medical Genetics. Part A.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

B. van der Zwaag, H. Kremer, S. Riazuddin, 2008, Nature Genetics.

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

S. Leal, C. Cremers, G. Vriend, 2008, American journal of human genetics.

A novel TMPRSS 3 missense mutation in a DFNB 8 / 10 family prevents proteolytic activation of the protein WATTENHOFER

A. Reymond, S. Antonarakis, B. Rossier, 2018 .

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

A. Reymond, S. Antonarakis, B. Rossier, 2005, Human Genetics.

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss

H. Brunner, H. Kremer, F. Cremers, 2005, Human mutation.

Mutations in the lipoma HMGIC fusion partner‐like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

C. Cremers, T. Strom, A. D. den Hollander, 2006, Human mutation.