M. Mueller‐Malesińska

Evidence Against RAB40AL Being the Locus for Martin–Probst X‐Linked Deafness–Intellectual Disability Syndrome

M. Borowiec, R. Płoski, W. Młynarski, 2014, Human Mutation.

MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment.

R. Płoski, A. Waśkiewicz, M. Ołdak, 2012, DNA and cell biology.

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

M. Tekin, K. Arnos, A. Pandya, 2009, European Journal of Human Genetics.

GJB2 mutations and degree of hearing loss: a multicenter study.

Mustafa Tekin, Umberto Ambrosetti, Nikolaus Blin, 2005, American journal of human genetics.

M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

R. Płoski, H. Skarżyński, P. Krajewski, 2007, American journal of medical genetics. Part A.

The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients.

R. Płoski, M. Rydzanicz, I. Wojsyk-Banaszak, 2011, Molecular genetics and metabolism.

Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss.

R. Płoski, M. Rydzanicz, H. Skarżyński, 2010, Biochemical and biophysical research communications.