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Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

Mediators of Inflammation, 2015-01, Vol.2015 (1), p.293417-293417

2015

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Comparison of antithrombin activity assays in detection of patients with heparin binding site antithrombin deficiency: systematic review and meta-analysis

Scientific reports, 2023-10, Vol.13 (1), p.16734-16734, Article 16734

2023

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Next-Generation Sequencing in Newborn Screening: A Review of Current State

Frontiers in genetics, 2021-05, Vol.12, p.662254-662254

2021

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Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi-Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency

Frontiers in immunology, 2023-01, Vol.13, p.1033513-1033513

2023

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Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity

Frontiers in endocrinology (Lausanne), 2022-04, Vol.13, p.832911-832911

2022

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PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome

Frontiers in immunology, 2020-07, Vol.11, p.1322-1322

2020

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A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review

Journal of international medical research, 2020-08, Vol.48 (8), p.300060520936857-300060520936857

2020

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Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in ARPC1B From Asymptomatic Carriers and Normal Controls

Frontiers in immunology, 2019-07, Vol.10, p.1632-1632

2019

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Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review

Frontiers in endocrinology (Lausanne), 2021-06, Vol.12, p.689387-689387

2021

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Challenges in identifying large germline structural variants for clinical use by long read sequencing

Computational and structural biotechnology journal, 2020-01, Vol.18, p.83-92

2020

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Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient

Frontiers in endocrinology (Lausanne), 2021-06, Vol.12, p.581134

2021

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Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism

Acta chimica Slovenica, 2021-09, Vol.68 (3), p.683-692

2021

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Technological Approaches in the Analysis of Extracellular Vesicle Nucleotide Sequences

Frontiers in bioengineering and biotechnology, 2021-12, Vol.9, p.787551-787551

2021

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Clinical impacts of copy number variations in B-cell differentiation and cell cycle control genes in pediatric B-cell acute lymphoblastic leukemia: a single centre experience

Radiology and oncology, 2021-12, Vol.56 (1), p.92-101

2021

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The association of folate pathway and DNA repair polymorphisms with susceptibility to childhood acute lymphoblastic leukemia

Gene, 2015-05, Vol.562 (2), p.203-209

2015

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Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program

Frontiers in genetics, 2021-04, Vol.12, p.648493-648493

2021

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Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency—a Report from the Slovenian National Registry

Journal of clinical immunology, 2016-11, Vol.36 (8), p.764-773

2016

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Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A

The American journal of case reports, 2022-11, Vol.23, p.e937220-e937220

2022

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Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review

Frontiers in medicine, 2023-06, Vol.10, p.1106441-1106441

2023

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Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency

Genes, 2022-04, Vol.13 (5), p.717

2022

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Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

Molecular genetics and metabolism reports, 2022-03, Vol.30, p.100836, Article 100836

2022

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Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening

Journal of international medical research, 2018-04, Vol.46 (4), p.1339-1348

2018

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Influence of the polymorphism in candidate genes on late cardiac damage in patients treated due to acute leukemia in childhood

Leukemia & lymphoma, 2009, Vol.50 (10), p.1693-1698

2009

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Acquired somatic variants confirm the independent development of AML in monozygotic twins with germline CEBPA variant

Leukemia research, 2022-10, Vol.121, p.106933-106933, Article 106933

2022

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Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

Comparison of antithrombin activity assays in detection of patients with heparin binding site antithrombin deficiency: systematic review and meta-analysis

Next-Generation Sequencing in Newborn Screening: A Review of Current State

Disease evolution and outcomes in familial AML with germline CEBPA mutations

Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi-Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency

Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity

PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome

A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review

Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in ARPC1B From Asymptomatic Carriers and Normal Controls

Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review

Challenges in identifying large germline structural variants for clinical use by long read sequencing

Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient

Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism

Technological Approaches in the Analysis of Extracellular Vesicle Nucleotide Sequences

Clinical impacts of copy number variations in B-cell differentiation and cell cycle control genes in pediatric B-cell acute lymphoblastic leukemia: a single centre experience

The association of folate pathway and DNA repair polymorphisms with susceptibility to childhood acute lymphoblastic leukemia

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program

Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency—a Report from the Slovenian National Registry

Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A

Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening

Influence of the polymorphism in candidate genes on late cardiac damage in patients treated due to acute leukemia in childhood

Acquired somatic variants confirm the independent development of AML in monozygotic twins with germline CEBPA variant

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