Boris Zagradisnik

Maribor, Slovenia

Last Updated: 09/26/2026

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Found 13 publications

Case Report: Rare triple-line chromosome 9 mosaicism (47,XX,+del(9)(q13)/47,XX,+9/46,XX) associated with severe neurodevelopmental impairment and congenital anomalies.

Case Report: Rare triple-line chromosome 9 mosaicism (47,XX,+del(9)(q13)/47,XX,+9/46,XX) associated with severe neurodevelopmental impairment and congenital anomalies.

Journal: Frontiers in genetics

Published: December 17, 2025

Genome-wide copy-number analysis improves detection of pathogenic AZFc and autosomal variants in idiopathic non-obstructive azoospermia.

Genome-wide copy-number analysis improves detection of pathogenic AZFc and autosomal variants in idiopathic non-obstructive azoospermia.

Journal: Molecular cytogenetics

Published: December 02, 2025

Assessing 48 SNPs in Hypertensive Paediatric Patients and Young Adults with Review of Genetic Background of Essential Hypertension.

Assessing 48 SNPs in Hypertensive Paediatric Patients and Young Adults with Review of Genetic Background of Essential Hypertension.

Journal: Children (Basel, Switzerland)

Published: June 30, 2022

Identification of genomic copy number variations associated with specific clinical features of head and neck cancer.

Identification of genomic copy number variations associated with specific clinical features of head and neck cancer.

Journal: Molecular cytogenetics

Published: November 16, 2017

A mosaic form of microphthalmia with linear skin defects.

A mosaic form of microphthalmia with linear skin defects.

Journal: BMC pediatrics

Published: August 29, 2017

Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems.

Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems.

Journal: Balkan journal of medical genetics : BJMG

Published: October 28, 2016

Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications.

Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications.

Journal: Clinical genetics

Published: November 06, 2015

Predictive value of paroxysmal EEG abnormalities for future epilepsy in focal febrile seizures.

Predictive value of paroxysmal EEG abnormalities for future epilepsy in focal febrile seizures.

Journal: Brain & development

Published: December 24, 2014

MTHFR C677T and A1298C Genotypes and Haplotypes in Slovenian Couples with Unexplained Infertility Problems and in Embryonic Tissues from Spontaneous Abortions.

MTHFR C677T and A1298C Genotypes and Haplotypes in Slovenian Couples with Unexplained Infertility Problems and in Embryonic Tissues from Spontaneous Abortions.

Journal: Balkan journal of medical genetics : BJMG

Published: November 23, 2013

An evaluation of SOX2 and hTERC gene amplifications as screening markers in oral and oropharyngeal squamous cell carcinomas.

An evaluation of SOX2 and hTERC gene amplifications as screening markers in oral and oropharyngeal squamous cell carcinomas.

Journal: Molecular cytogenetics

Published: September 25, 2013

Slovenian five-year experiences with rapid prenatal diagnosis of common chromosome aneuploidies using quantitative-fluorescence polymerase chain reaction.

Slovenian five-year experiences with rapid prenatal diagnosis of common chromosome aneuploidies using quantitative-fluorescence polymerase chain reaction.

Journal: Genetic testing and molecular biomarkers

Published: June 22, 2013

Deletion of the last exon of SHANK3 gene produces the full Phelan-McDermid phenotype: a case report.

Deletion of the last exon of SHANK3 gene produces the full Phelan-McDermid phenotype: a case report.

Journal: Gene

Published: December 13, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026