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List of works by Ahmet Karaguzel

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

scientific article

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

Chromosomal abnormalities in 457 Turkish patients with MCA/MR.

scientific article published in April 2006

Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease

scientific article published in June 2003

Detection of chromosomal aberrations in prostate cancer by fluorescence in situ hybridization (FISH).

scientific article published on December 2003

Early infantile autism and fragile X anomaly.

scientific article published in January 2004

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

scientific article published in May 2005

Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation ⬇️

scientific article published on November 7, 2012

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

scientific article published in July 2007

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

scientific article

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

scientific article published in July 2006

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

scientific article

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

scientific article

Ocular myasthenia gravis associated with x-linked recessive spinal and bulbar muscular atrophy

scientific article

The frequency of chromosomal abnormalities in patients with reproductive failure

scientific article published on 27 January 2006

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