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APPLICATION OF MOLECULAR KARYOTYPING IN PRENATAL DIAGNOSTICS.
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- Genetics & Applications, 2024, p. 17
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- Publication type:
- Article
CCR5 Δ32 and CTLA-4 +49 A/G Gene Polymorphisms and Interferon-β Treatment Response in Croatian and Slovenian Multiple Sclerosis Patients.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 13, p. 7412, doi. 10.3390/ijms25137412
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- Article
Pregnant couples' attitude toward extended preconceptional genomic screening.
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- Croatian Medical Journal, 2024, v. 65, n. 3, p. 189, doi. 10.3325/cmj.2024.65.189
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- Publication type:
- Article
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability—An Exception or a Necessity?
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- Genes, 2024, v. 15, n. 6, p. 789, doi. 10.3390/genes15060789
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- Publication type:
- Article
GiOPARK Project: The Genetic Study of Parkinson's Disease in the Croatian Population.
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- Genes, 2024, v. 15, n. 2, p. 255, doi. 10.3390/genes15020255
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- Publication type:
- Article
A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans–A cohort study.
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- PLoS ONE, 2023, v. 18, n. 12, p. 1, doi. 10.1371/journal.pone.0294969
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- Publication type:
- Article
Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.
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- Genes, 2023, v. 14, n. 12, p. 2166, doi. 10.3390/genes14122166
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- Publication type:
- Article
Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson's disease and monogenic dystonia: a multidisciplinary team perspective.
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- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1282267
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- Publication type:
- Article
Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge.
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- 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.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1167054
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- Publication type:
- Article
The genetic approach to stillbirth: A »systematic review«.
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- Prenatal Diagnosis, 2023, v. 43, n. 9, p. 1220, doi. 10.1002/pd.6354
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- Publication type:
- Article
A case report of a novel GNB1 pathogenic variant and the response to deep brain stimulation.
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- 2023
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- Publication type:
- Letter
The Expanding Phenotypical Spectrum of WARS2 -Related Disorder: Four Novel Cases with a Common Recurrent Variant.
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- Genes, 2023, v. 14, n. 4, p. 822, doi. 10.3390/genes14040822
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- Publication type:
- Article
Assessment of pathogenic variation in gynecologic cancer genes in a national cohort.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-32397-8
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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.
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- Cells (2073-4409), 2023, v. 12, n. 1, p. 164, doi. 10.3390/cells12010164
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- Publication type:
- Article
Rare disease education in Europe and beyond: time to act.
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- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02527-y
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- Publication type:
- Article
The effects of microbiota abundance on symptom severity in Parkinson’s disease: A systematic review.
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- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.1020172
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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.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1016165
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- Publication type:
- Article
A multicenter study of genetic testing for Parkinson's disease in the clinical setting.
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- NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-022-00408-6
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- Publication type:
- Article
The Relative Preservation of the Central Retinal Layers in Leber Hereditary Optic Neuropathy.
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- Journal of Clinical Medicine, 2022, v. 11, n. 20, p. 6045, doi. 10.3390/jcm11206045
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- Publication type:
- Article
ANALYSIS OF "CLINICAL EXOME" PANEL IN SERBIAN PATIENTS WITH COGNITIVE DISORDERS.
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- Genetika (0534-0012), 2022, v. 54, n. 3, p. 1351, doi. 10.2298/GENSR2203351B
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- Publication type:
- Article
The Endometrial Transcriptome of Metabolic and Inflammatory Pathways During the Window of Implantation Is Deranged in Infertile Obese Polycystic Ovarian Syndrome Women.
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- Metabolic Syndrome & Related Disorders, 2022, v. 20, n. 7, p. 384, doi. 10.1089/met.2021.0149
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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.
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- 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
Syndromic male subfertility: A network view of genome–phenome associations.
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- Andrology, 2022, v. 10, n. 4, p. 720, doi. 10.1111/andr.13167
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- Publication type:
- Article
Editorial: The Importance of Genetic Literacy and Education in Medicine.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.910530
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- Publication type:
- Article
Lack of association between C282Y and H63D polymorphisms in the hemochromatosis gene and risk of multiple sclerosis: A meta-analysis.
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- Biomedical Reports, 2022, v. 16, n. 2, p. 1, doi. 10.3892/br.2021.1495
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- Publication type:
- Article
Current State of Compulsory Basic and Clinical Courses in Genetics for Medical Students at Medical Faculties in Balkan Countries With Slavic Languages.
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- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.793834
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- Publication type:
- Article
Maternal LINE-1 DNA Methylation in Early Spontaneous Preterm Birth.
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- Biological Research for Nursing, 2022, v. 24, n. 1, p. 85, doi. 10.1177/10998004211043571
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- Publication type:
- Article
CLINICAL EXOME SEQUENCING IN SERBIAN PATIENTS WITH MOVEMENT DISORDERS - SINGLE CENTRE EXPERIENCE.
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- Genetika (0534-0012), 2022, v. 54, n. 1, p. 395, doi. 10.2298/GENSR2201395B
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- Publication type:
- Article
Potential protective role of a NOD2 polymorphism in the susceptibility to multiple sclerosis is not associated with interferon therapy.
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- Biomedical Reports, 2021, v. 15, n. 6, p. N.PAG, doi. 10.3892/br.2021.1476
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- Publication type:
- Article
MicroRNA-Target Interaction Regulatory Network in Alzheimer's Disease.
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- Journal of Personalized Medicine, 2021, v. 11, n. 12, p. 1275, doi. 10.3390/jpm11121275
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- Publication type:
- Article
Increasing Genomic Literacy Through National Genomic Projects.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.693253
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- Publication type:
- Article
A Systematic Review of Parkinson's Disease Pharmacogenomics: Is There Time for Translation into the Clinics?
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- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 7213, doi. 10.3390/ijms22137213
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- Publication type:
- Article
Mucopolysaccharidosis III: Molecular basis and treatment.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2021, v. 27, n. 3, p. 199, doi. 10.5114/pedm.2021.109270
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- Article
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
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- PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0252953
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- Article
Identification of women at risk for hereditary breast and ovarian cancer in a sample of 1000 Slovenian women: a comparison of guidelines.
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- 2021
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- Publication type:
- journal article
Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR - ORF15.
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- Genes, 2021, v. 12, n. 4, p. 499, doi. 10.3390/genes12040499
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- Publication type:
- Article
How to design a national genomic project—a systematic review of active projects.
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- Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00315-6
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- Publication type:
- Article
Whole-Genome Sequencing in Diagnostics of Selected Slovenian Undiagnosed Patients with Rare Disorders.
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- Life (2075-1729), 2021, v. 11, n. 3, p. 205, doi. 10.3390/life11030205
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- Publication type:
- Article
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
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- 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.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1084, doi. 10.3390/ijms22031084
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- Publication type:
- Article
De novo mutations in idiopathic male infertility—A pilot study.
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- Andrology, 2021, v. 9, n. 1, p. 212, doi. 10.1111/andr.12897
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- Publication type:
- Article
Genetičko testiranje recesivnih monogenskih bolesti: od dijagnostičkog testiranja do suvremenog proširenog genomskog probira nositelja.
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- Medicina Fluminensis, 2021, v. 57, n. 1, p. 25, doi. 10.21860/medflum2021_365337
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- Publication type:
- Article
Nutraceutical Approaches of Autophagy and Neuroinflammation in Alzheimer's Disease: A Systematic Review.
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- Molecules, 2020, v. 25, n. 24, p. 6018, doi. 10.3390/molecules25246018
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- Publication type:
- Article
Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.
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- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0239329
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- Publication type:
- Article
Vitamin D receptor polymorphisms in spontaneous preterm birth: a case-control study.
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- Croatian Medical Journal, 2020, v. 61, n. 4, p. 338, doi. 10.3325/cmj.2020.61.338
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- Publication type:
- Article
Genetics-Related Activities in Everyday Practice of Family Physicians in Slovenia.
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- Public Health Genomics, 2020, v. 23, n. 5/6, p. 230, doi. 10.1159/000511561
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- Publication type:
- Article
DNMT3B rs1569686 and rs2424913 gene polymorphisms are associated with positive family history of preterm birth and smoking status.
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- Croatian Medical Journal, 2020, v. 61, n. 1, p. 8, doi. 10.3325/cmj.2020.61.8
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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.
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- Journal of Child Neurology, 2020, v. 35, n. 2, p. 116, doi. 10.1177/0883073819879835
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- Publication type:
- Article
Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.980
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- Publication type:
- Article