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

European journal of human genetics : EJHG, 2022-04, Vol.30 (4), p.428-438

2022

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

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.57-57, Article 57

2023

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

Frontiers in genetics, 2023-06, Vol.14, p.1211858

2023

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

Molecular cytogenetics, 2018-12, Vol.11 (1), p.62-5, Article 62

2018

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Genetische Diagnostik

Wiener klinische Wochenschrift Education, 2019-12, Vol.14 (1-4), p.29-47

2019

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Identifizierung von Patientinnen und Patienten mit der hereditären Form des Mamma- und Ovarialkarzinoms mittels Next-Generation-Sequencing-(NGS)-Technologie

Smogavec, Mateja

2019

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Large neutral amino acid levels tune perinatal neuronal excitability and survival

Cell, 2023-04, Vol.186 (9), p.1950-1967.e25

2023

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

International archives of allergy and immunology, 2023-09, Vol.184 (9), p.914-931

2023

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

Journal of medical genetics, 2016-12, Vol.53 (12), p.820-827

2016

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An overview of self-treatment and selfmedication practices among Slovenian citizens

Zdravniški vestnik (Ljubljana, Slovenia : 1992), 2010-11, Vol.79 (11)

2010

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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

Cancer medicine (Malden, MA), 2018-04, Vol.7 (4), p.1349-1358

2018

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CHROMOSOME ABNORMALITIES IN INFERTILITY

Zdravniški vestnik (Ljubljana, Slovenia : 1992), 2009-08, Vol.78 (8)

2009

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

World journal of urology, 2023-08, Vol.41 (8), p.2091-2097

2023

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NGS-based multi-gene panel analysis in BRCA1/2 -negative breast and ovarian cancer families

Journal of clinical oncology, 2017-05, Vol.35 (15_suppl), p.1526-1526

2017

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Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

Molecular cytogenetics, 2014-10, Vol.7 (1), p.74-74, Article 74

2014

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

Neurology. Genetics, 2017-08, Vol.3 (4), p.e167-e167

2017

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HEALTH-RELATED QUALITY OF LIFE: A POPULATION BASED STUDY FROM SLOVENIA

Central European journal of public health, 2011-03, Vol.19 (1), p.7-12

2011

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Gene panel testing of 5589 BRCA 1/2 ‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Cancer medicine (Malden, MA), 2018-04, Vol.7 (4), p.1349-1358

2018

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Prevalence of chronic diseases among adult Slovene population

Zdravstveno varstvo, 2011-01, Vol.50 (3), p.185

2011

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CHROMOSOME ABNORMALITIES IN INFERTILITY

Zdravniški vestnik (Ljubljana, Slovenia : 1992), 2009-08, Vol.78 (8)

2009

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

Frontiers in genetics, 2023, Vol.14, p.1211858-1211858

2023

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

Molecular cytogenetics, 2018, Vol.11, p.62-62

2018

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Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

Molecular cytogenetics, 2014, Vol.7 (1), p.74-74

2014

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

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

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

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

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

Genetische Diagnostik

Identifizierung von Patientinnen und Patienten mit der hereditären Form des Mamma- und Ovarialkarzinoms mittels Next-Generation-Sequencing-(NGS)-Technologie

Large neutral amino acid levels tune perinatal neuronal excitability and survival

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

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

An overview of self-treatment and selfmedication practices among Slovenian citizens

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

CHROMOSOME ABNORMALITIES IN INFERTILITY

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

NGS-based multi-gene panel analysis in BRCA1/2 -negative breast and ovarian cancer families

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

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

HEALTH-RELATED QUALITY OF LIFE: A POPULATION BASED STUDY FROM SLOVENIA

Gene panel testing of 5589 BRCA 1/2 ‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Prevalence of chronic diseases among adult Slovene population

CHROMOSOME ABNORMALITIES IN INFERTILITY

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

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

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

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