Mateja Smogavec

Vienna, Austria

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 12 publications

Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report.

Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report.

Journal: Frontiers in genetics

Published: April 25, 2023

Performance of clinical risk scores and prediction models to identify pathogenic germline variants in patients with advanced prostate cancer.

Performance of clinical risk scores and prediction models to identify pathogenic germline variants in patients with advanced prostate cancer.

Journal: World journal of urology

Published: March 25, 2023

Mycobacterium avium Complex Infections: Detailed Phenotypic and Functional Immunological Work-Up Is Required despite Genetic Analyses.

Mycobacterium avium Complex Infections: Detailed Phenotypic and Functional Immunological Work-Up Is Required despite Genetic Analyses.

Journal: International archives of allergy and immunology

Published: February 24, 2023

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations.

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations.

Journal: Orphanet journal of rare diseases

Published: July 08, 2022

Large neutral amino acid levels tune perinatal neuronal excitability and survival.

Large neutral amino acid levels tune perinatal neuronal excitability and survival.

Journal: Cell

Published: July 01, 2022

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Journal: Genes

Published: December 20, 2021

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG

Published: March 17, 2021

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.

Journal: Molecular cytogenetics

Published: July 26, 2018

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.

Journal: Cancer medicine

Published: September 19, 2017

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset.

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset.

Journal: Neurology. Genetics

Published: February 08, 2017

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.

Journal: Journal of medical genetics

Published: March 03, 2016

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Journal: Molecular cytogenetics

Published: August 27, 2014

Showing 1-12 of 12

Last Updated: 09/26/2026