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List of works by Kamil Szulborski

Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis

scientific article published on 22 December 2020

Electrophysiological testing as a method of cone-rod and cone dystrophy diagnoses and prediction of disease progression.

scientific article published on 21 January 2015

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.

scientific article

Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles ⬇️

scientific article published on 13 May 2020

Motion-Based Acuity Task: Full Visual Field Measurement of Shape and Motion Perception

scientific article published in 2021

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

scientific article published on 21 November 2015

Not only optic neuropathy: new molecular and clinical aspects of OPA1 gene mutations

scientific article published in January 2014

ORF15 exon of the RPGR gene in retinitis pigmentosa – technically difficult, diagnostically important

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

scientific article published on 25 August 2017

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