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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.
- Published in:
- Frontiers in Immunology, 2023, v. 13, p. 01, doi. 10.3389/fimmu.2022.1033513
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- Article
Heterozygous NPR2 Variants in Idiopathic Short Stature.
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- Genes, 2022, v. 13, n. 6, p. 1065, doi. 10.3390/genes13061065
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- Article
The Role of Epigenetic Modifications in Late Complications in Type 1 Diabetes.
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- Genes, 2022, v. 13, n. 4, p. 705, doi. 10.3390/genes13040705
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- Article
Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation.
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- Pediatric Rheumatology, 2016, v. 14, p. 1, doi. 10.1186/s12969-016-0097-1
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- Article
Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.832911
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- Article
Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency-a Report from the Slovenian National Registry.
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- Journal of Clinical Immunology, 2016, v. 36, n. 8, p. 764, doi. 10.1007/s10875-016-0330-1
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- Article
Cathepsin C Gene 5′-Untranslated Region Mutation in Papillon-Lefèvre Syndrome.
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- Dermatology (10188665), 2013, v. 225, n. 3, p. 193, doi. 10.1159/000342509
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- Article
The use of quetiapine in treatment of acute psychotic symptoms in an adolescent patient with primary brain calcification: a case report.
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- BMC Psychiatry, 2019, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12888-019-2047-1
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- Article
DNA repair polymorphisms influence the risk of second neoplasm after treatment of childhood acute lymphoblastic leukemia.
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- Journal of Cancer Research & Clinical Oncology, 2012, v. 138, n. 11, p. 1919, doi. 10.1007/s00432-012-1265-4
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- Article
Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population/Selektivni Skrining Metaboličkih Poremećaja Kod Dečije Populacije U Sloveniji.
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- Journal of Medical Biochemistry, 2014, v. 34, n. 1, p. 58, doi. 10.2478/jomb-2014-0056
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- Article
X-linked lymphoproliferative disease with a novel SH2D1A gene mutation.
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- Pediatric Blood & Cancer, 2008, v. 50, n. 1, p. 187, doi. 10.1002/pbc.21216
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- Publication type:
- Article
PAX5 Alterations in a Consecutive Childhood B-Cell Acute Lymphoblastic Leukemia Cohort Treated Using the ALL IC-BFM 2009 Protocol.
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- Cancers, 2024, v. 16, n. 6, p. 1164, doi. 10.3390/cancers16061164
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- Article
Integrative Transcriptomic Profiling of the Wilms Tumor.
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- Cancers, 2023, v. 15, n. 15, p. 3846, doi. 10.3390/cancers15153846
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- Article
Specific and global coagulation tests in patients with mild haemophilia A with a double mutation (Glu113Asp, Arg593Cys).
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- Blood Transfusion (17232007), 2015, v. 13, n. 4, p. 622, doi. 10.2450/2015.0321-14
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- Article
Rituximab for the treatment of high titre inhibitors in mild haemophilia A.
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- Blood Transfusion (17232007), 2014, v. 12, p. s345, doi. 10.2450/2013.0229-12
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- Article
Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients.
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- Mediators of Inflammation, 2015, v. 2015, p. 1, doi. 10.1155/2015/293417
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- Article
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.
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- Acta Chimica Slovenica, 2021, v. 68, n. 3, p. 683, doi. 10.17344/acsi.2021.6690
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- Article
PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome.
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- Frontiers in Immunology, 2020, v. 11, p. 1, doi. 10.3389/fimmu.2020.01322
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- Article
Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in ARPC1B From Asymptomatic Carriers and Normal Controls.
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- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01632
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- Article
Comparison of antithrombin activity assays in detection of patients with heparin binding site antithrombin deficiency: systematic review and meta-analysis.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-43941-x
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- Article
Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.
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- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.581134
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- Article
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.
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- 2022
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- Case Study
Familiárna stredomorská horúčka - prvé skúsenosti na Slovensku.
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- Internal Medicine / Vnitrni Lekarstvi, 2014, v. 60, n. 1, p. 80
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- Article
Familiárni středozemní horečka v České republice.
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- Internal Medicine / Vnitrni Lekarstvi, 2014, v. 60, n. 1, p. 25
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- Article