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Non‐dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 4, p. 500, doi. 10.1111/cge.14567
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- Publication type:
- Article
Gene expression changes in blood as a putative biomarker for Huntington's disease.
- Published in:
- Movement Disorders, 2009, v. 24, n. 15, p. 2277, doi. 10.1002/mds.22477
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- Publication type:
- Article
A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 5, p. 1, doi. 10.1101/mcs.a006221
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- Publication type:
- Article
APPLICATION OF MOLECULAR KARYOTYPING IN PRENATAL DIAGNOSTICS.
- Published in:
- Genetics & Applications, 2024, p. 17
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- Publication type:
- Article
De Novo NEMO Gene Deletion (Δ4-10) -- A Cause of Incontinentia Pigmenti in a Female Infant: A Case Report.
- Published in:
- Collegium Antropologicum, 2008, v. 32, n. 4, p. 1259
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- Publication type:
- Article
HLA Class II Polymorphism in Autochthonous Population of Gorski Kotar, Croatia.
- Published in:
- Collegium Antropologicum, 2007, v. 31, n. 3, p. 853
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- Publication type:
- Article
The Interleukin-1 Receptor Antagonist Gene and the Inhibitor of Kappa B-Like Protein Gene Polymorphisms Are Not Associated with Myocardial Infarction in Slovene Population with Type 2 Diabetes.
- Published in:
- Collegium Antropologicum, 2007, v. 31, n. 2, p. 503
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- Publication type:
- Article
Omics technologies and neovascular ocular disorders.
- Published in:
- 2014
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- Publication type:
- Journal Article
Integration of Data from Omic Studies with the Literature-Based Discovery towards Identification of Novel Treatments for Neovascularization in Diabetic Retinopathy.
- Published in:
- 2013
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- Publication type:
- Journal Article
Integration of Data from Omic Studies with the Literature-Based Discovery towards Identification of Novel Treatments for Neovascularization in Diabetic Retinopathy.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/848952
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- Publication type:
- Article
Expression of Markers of Endometrial Receptivity in Obese Infertile PCOS Women before and after the Weight Loss Program—A Preliminary Study.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 1, p. 164, doi. 10.3390/cells12010164
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- Publication type:
- Article
Integrative transcriptomic analysis in human and mouse model of anaphylaxis identifies gene signatures associated with cell movement, migration and neuroinflammatory signalling.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1016165
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- Publication type:
- Article
Tumor Necrosis Factor-α-308 Gene Polymorphism in Croatian and Slovenian Multiple Sclerosis Patients.
- Published in:
- European Neurology, 2007, v. 57, n. 4, p. 203, doi. 10.1159/000099159
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- Publication type:
- Article
Genetics-Related Activities in Everyday Practice of Family Physicians in Slovenia.
- Published in:
- Public Health Genomics, 2020, v. 23, n. 5/6, p. 230, doi. 10.1159/000511561
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- Publication type:
- Article
Genetic variation in the CLOCK gene is associated with idiopathic recurrent spontaneous abortion.
- Published in:
- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0196345
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- Publication type:
- Article
Association of circadian rhythm genes ARNTL/BMAL1 and CLOCK with multiple sclerosis.
- Published in:
- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0190601
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- Publication type:
- Article
Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.
- Published in:
- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0188578
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- Publication type:
- Article
Maternal LINE-1 DNA Methylation in Early Spontaneous Preterm Birth.
- Published in:
- Biological Research for Nursing, 2022, v. 24, n. 1, p. 85, doi. 10.1177/10998004211043571
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- Publication type:
- Article
Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.
- Published in:
- Journal of Child Neurology, 2020, v. 35, n. 2, p. 116, doi. 10.1177/0883073819879835
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- Publication type:
- Article
A case report of a novel GNB1 pathogenic variant and the response to deep brain stimulation.
- Published in:
- 2023
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- Publication type:
- Letter
The Str mouse as a model for Incontinentia pigmenti.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2000, v. 440, n. 7, p. r053, doi. 10.1007/s004240000004
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- Publication type:
- Article
The Str mouse as a model for Incontinentia pigmenti.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2000, v. 440, p. R53, doi. 10.1007/s004240000004
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- Publication type:
- Article
Deletion/insertion polymorphism in the angiotension - converting enzyme gene as a risk factor in the Slovenian patients with coronary heart disease.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2000, v. 439, n. 7, p. r040, doi. 10.1007/BF03376516
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- Publication type:
- Article
Angiotensin-converting enzyme gene polymorphism as a cardiovascular risk factor in children.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2000, v. 439, n. 7, p. r034, doi. 10.1007/s004240000081
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- Publication type:
- Article
DD Genotype of the angiotensin - converting enzyme gene and stroke in Slovenian population.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2000, v. 439, n. 7, p. r038, doi. 10.1007/BF03376515
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- Publication type:
- Article
Nutraceutical Approaches of Autophagy and Neuroinflammation in Alzheimer's Disease: A Systematic Review.
- Published in:
- Molecules, 2020, v. 25, n. 24, p. 6018, doi. 10.3390/molecules25246018
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- Publication type:
- Article
An ESHG–ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction.
- Published in:
- Human Reproduction, 2024, v. 39, n. 8, p. 1844, doi. 10.1093/humrep/deae131
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- Publication type:
- Article
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-45598-x
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- Publication type:
- Article
Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1173426
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- Publication type:
- Article
Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONOassociated X-linked syndromic intellectual developmental disorder.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1167054
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- Publication type:
- Article
Role of genetic polymorphisms in ACE and TNF-α gene in sarcoidosis: a meta-analysis.
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- Journal of Human Genetics, 2007, v. 52, n. 10, p. 836, doi. 10.1007/s10038-007-0185-7
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- Publication type:
- Article
Patients with primary cataract as a genetic pool of DMPK protomutation.
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- Journal of Human Genetics, 2007, v. 52, n. 2, p. 123, doi. 10.1007/s10038-006-0091-4
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- Publication type:
- Article
A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 12, p. 646, doi. 10.1007/s10038-003-0094-3
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- Publication type:
- Article
BglII gene polymorphism of the α2β1 integrin gene is a risk factor for diabetic retinopathy in Caucasians with type 2 diabetes.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 9, p. 457, doi. 10.1007/s10038-003-0060-0
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- Publication type:
- Article
A Single Nucleotide Polymorphism of DNA methyltransferase 3B gene is a risk factor for recurrent spontaneous abortion.
- Published in:
- American Journal of Reproductive Immunology, 2017, v. 78, n. 6, p. n/a, doi. 10.1111/aji.12765
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- Publication type:
- Article
Towards a European consensus for reporting incidental findings during clinical NGS testing.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1601, doi. 10.1038/ejhg.2015.111
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- Publication type:
- Article
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1438, doi. 10.1038/ejhg.2015.57
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- Publication type:
- Article
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1592, doi. 10.1038/ejhg.2015.109
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- Publication type:
- Article
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 160, doi. 10.1038/ejhg.2013.125
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- Publication type:
- Article
Telegenetics: an Update on Availability and Use of Telemedicine in Clinical Genetics Service.
- Published in:
- Journal of Medical Systems, 2017, v. 41, n. 2, p. 1, doi. 10.1007/s10916-016-0666-3
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- Publication type:
- Article
Mutations in SCN3A cause early infantile epileptic encephalopathy.
- Published in:
- 2018
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- Publication type:
- journal article
A Systematic Review of Parkinson's Disease Pharmacogenomics: Is There Time for Translation into the Clinics?
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 7213, doi. 10.3390/ijms22137213
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- Publication type:
- Article
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2133, doi. 10.3390/ijms22042133
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- Publication type:
- Article
Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1084, doi. 10.3390/ijms22031084
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- Publication type:
- Article
Clinical utility of array comparative genomic hybridisation in prenatal setting.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0345-8
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- Publication type:
- Article
Analysis of the CAG repeat number in exon 1 of the androgen receptor gene in Slovene men with idiopathic azoospermia and oligoasthenoteratozoospermia.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1062, doi. 10.1002/pd.6616
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- Publication type:
- Article
The genetic approach to stillbirth: A »systematic review«.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 9, p. 1220, doi. 10.1002/pd.6354
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- Publication type:
- Article
Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 10, p. 871, doi. 10.1002/bdr2.1213
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- Publication type:
- Article
The lack of association between angiotensin-converting enzyme gene insertion/deletion polymorphism and nicotine dependence in multiple sclerosis.
- Published in:
- Brain & Behavior, 2017, v. 7, n. 1, p. n/a, doi. 10.1002/brb3.600
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- Publication type:
- Article