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List of works by Lech Korniszewski

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

scientific article published on 10 January 2006

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

scientific article published on 03 December 2013

Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences

scientific article

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation

scientific article published in November 2007

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

scientific article published in March 2018

M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

scientific article published on 01 November 2007

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

scientific article

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype

scientific article

Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation

scientific article published on 01 May 2003

Wiedemann-Rautenstrauch syndrome's fibroblasts display a normal in vitro lifespan

scientific article

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter

scientific article published on 08 July 2011

[Genetics of primary pulmonary hypertension]

scientific article published on 01 April 2004

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