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List of works by Martina Putzova

Application of SNP array method in prenatal diagnosis

scientific article published in September 2011

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy

scientific article published on 10 April 2018

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

scientific article published on 01 July 2019

Implementation of arrays in first trimester prenatal diagnosis

scientific article

OmniPlex--a new QF-PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population.

scientific article

Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome

scientific article published on 01 August 2019

Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis.

scientific article

Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis.

scientific article

Primary capillary hemangioblastoma of peripheral soft tissues

scientific article published in July 2004

Reactive syringofibroadenomatous hyperplasia in peristomal skin with formation of hybrid epidermal-colonic mucosa glandular structures, intraepidermal areas of sebaceous differentiation, induction of hair follicles, and features of human papillomavi

scientific article published in April 2005

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia

scientific article published on 23 June 2016

Targeted treatment of metastatic melanoma in a drug-addicted patient with pre-existing hepatitis C

scientific article published on 13 December 2018

[Frequency view on genome changes testing]

scientific article published on 01 January 2006

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