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Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Next-Generation Sequencing in Newborn Screening: A Review of Current State.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.662254
- By:
- Publication type:
- Article
Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.572176
- By:
- Publication type:
- Article
Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 1, p. 138, doi. 10.1002/aur.1345
- By:
- Publication type:
- Article
SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.
- Published in:
- Nefrologia, 2020, v. 40, n. 4, p. 421, doi. 10.1016/j.nefro.2019.10.009
- By:
- Publication type:
- Article
Autoimmune Regulator-1 Messenger Ribonucleic Acid Analysis in a Novel Intronic Mutation and Two Additional Novel AIRE Gene Mutations in a Cohort of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 8, p. 4930, doi. 10.1210/jc.2005-0418
- By:
- Publication type:
- Article
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2016, v. 273, n. 5, p. 1151, doi. 10.1007/s00405-015-3671-0
- By:
- Publication type:
- Article
IL-22 Paucity in APECED Is Associated With Mucosal and Microbial Alterations in Oral Cavity.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. 1, doi. 10.3389/fimmu.2020.00838
- By:
- Publication type:
- Article
Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1248231
- By:
- Publication type:
- Article
Correlation Between A VPR2 Mutations and Urinary AQP2 Excretion in Patients with Nephrogenic Diabetes Insipidus.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2007, v. 20, n. 4, p. 483
- By:
- Publication type:
- Article
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
- Published in:
- Journal of International Medical Research, 2018, v. 46, n. 4, p. 1339, doi. 10.1177/0300060517734123
- By:
- Publication type:
- Article
Cathepsin C Gene 5′-Untranslated Region Mutation in Papillon-Lefèvre Syndrome.
- Published in:
- Dermatology (10188665), 2013, v. 225, n. 3, p. 193, doi. 10.1159/000342509
- By:
- Publication type:
- Article
Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.581134
- By:
- Publication type:
- Article
Connexin 26 (GJB2) and connexin 30 del(GJB6-D13S1830) mutations in Slovenians with prelingual non-syndromic deafness.
- Published in:
- Journal of International Advanced Otology, 2011, v. 7, n. 3, p. 372
- By:
- Publication type:
- Article
Attachment in close relationships and glycemic outcomes in children with type 1 diabetes.
- Published in:
- Child & Adolescent Psychiatry & Mental Health, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s13034-023-00672-1
- By:
- Publication type:
- Article
Telomere Attrition in Chronic Kidney Diseases.
- Published in:
- Antioxidants, 2023, v. 12, n. 3, p. 579, doi. 10.3390/antiox12030579
- By:
- Publication type:
- Article
Assessment of the Telomere Length and Its Effect on the Symptomatology of Parkinson's Disease.
- Published in:
- Antioxidants, 2021, v. 10, n. 1, p. 137, doi. 10.3390/antiox10010137
- By:
- Publication type:
- Article
IL-6-specific autoantibodies among APECED and thymoma patients.
- Published in:
- Immunity, Inflammation & Disease, 2016, v. 4, n. 2, p. 235, doi. 10.1002/iid3.109
- By:
- Publication type:
- Article
Association of Glycemic Control and Cell Stress With Telomere Attrition in Type 1 Diabetes.
- Published in:
- JAMA Pediatrics, 2018, v. 172, n. 9, p. 879, doi. 10.1001/jamapediatrics.2018.1175
- By:
- Publication type:
- Article
Autoantibody Repertoire in APECED Patients Targets Two Distinct Subgroups of Proteins.
- Published in:
- Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.00976
- By:
- Publication type:
- Article
Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Painful micturition in a small child: an unusual clinical picture of paroxysmal extreme pain disorder.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 9, p. 1643, doi. 10.1007/s00467-014-2819-2
- By:
- Publication type:
- Article
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 3, p. 153, doi. 10.1159/000433468
- By:
- Publication type:
- Article
Dynamics of Leukocyte Telomere Length in Patients with Fabry Disease.
- Published in:
- Biomedicines, 2024, v. 12, n. 8, p. 1724, doi. 10.3390/biomedicines12081724
- By:
- Publication type:
- Article
DEPTOR promoter genetic variants and insulin resistance in obese children and adolescents.
- Published in:
- Pediatric Diabetes, 2017, v. 18, n. 2, p. 152, doi. 10.1111/pedi.12371
- By:
- Publication type:
- Article
Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.936121
- By:
- Publication type:
- Article
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1134133
- By:
- Publication type:
- Article
X-linked lymphoproliferative disease with a novel SH2D1A gene mutation.
- Published in:
- Pediatric Blood & Cancer, 2008, v. 50, n. 1, p. 187, doi. 10.1002/pbc.21216
- By:
- Publication type:
- Article
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.
- Published in:
- Acta Chimica Slovenica, 2021, v. 68, n. 3, p. 683, doi. 10.17344/acsi.2021.6690
- By:
- Publication type:
- Article
The c.3140-26A>G Variant of the CFTR Gene in Homozygous State Causes Mild Cystic Fibrosis - Overview of Longitudinal Clinical Data of the Patient Managed in our CF Center and Review of the Literature.
- Published in:
- Acta Chimica Slovenica, 2020, v. 67, n. 2, p. 666, doi. 10.17344/acsi.2019.5677
- By:
- Publication type:
- Article
Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.
- Published in:
- Acta Chimica Slovenica, 2016, v. 63, n. 1, p. 33, doi. 10.17344/acsi.2015.1797
- By:
- Publication type:
- Article
Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1387419
- By:
- Publication type:
- Article
Special Issue "Genetics and Epigenetics in Endocrine Disorders".
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1763, doi. 10.3390/genes14091763
- By:
- Publication type:
- Article
Interplay between microRNAs, Serum Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9), and Lipid Parameters in Patients with Very High Lipoprotein(a) Treated with PCSK9 Inhibitors.
- Published in:
- Genes, 2023, v. 14, n. 3, p. 632, doi. 10.3390/genes14030632
- By:
- Publication type:
- Article
An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1272, doi. 10.3390/genes13071272
- By:
- Publication type:
- Article
Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 717, doi. 10.3390/genes13050717
- By:
- Publication type:
- Article
Pathogenesis of Type 1 Diabetes: Established Facts and New Insights.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 706, doi. 10.3390/genes13040706
- By:
- Publication type:
- Article
The Role of Epigenetic Modifications in Late Complications in Type 1 Diabetes.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 705, doi. 10.3390/genes13040705
- By:
- Publication type:
- Article
A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 657, doi. 10.3390/genes13040657
- By:
- Publication type:
- Article
Detection of Del/Dup Inside SHOX /PAR1 Region in Children and Young Adults with Idiopathic Short Stature.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1546, doi. 10.3390/genes12101546
- By:
- Publication type:
- Article
Urinary Extracellular Vesicles and Their miRNA Cargo in Patients with Fabry Nephropathy.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1057, doi. 10.3390/genes12071057
- By:
- Publication type:
- Article
Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 484, doi. 10.3390/genes12040484
- By:
- Publication type:
- Article
Biomarkers of Fabry Nephropathy: Review and Future Perspective.
- Published in:
- Genes, 2020, v. 11, n. 9, p. 1091, doi. 10.3390/genes11091091
- By:
- Publication type:
- Article
Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population/Selektivni Skrining Metaboličkih Poremećaja Kod Dečije Populacije U Sloveniji.
- Published in:
- Journal of Medical Biochemistry, 2014, v. 34, n. 1, p. 58, doi. 10.2478/jomb-2014-0056
- By:
- Publication type:
- Article
Telomere Attrition in Neurodegenerative Disorders.
- Published in:
- Frontiers in Cellular Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fncel.2020.00219
- By:
- Publication type:
- Article
Genetic Polymorphisms in Genes Encoding Antioxidant Enzymes Are Associated With Diabetic Retinopathy in Type 1 Diabetes.
- Published in:
- Diabetes Care, 2009, v. 32, n. 12, p. 2258, doi. 10.2337/dc09-0852
- By:
- Publication type:
- Article
GNRHR-related central hypogonadism with spontaneous recovery – case report.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01377-5
- By:
- Publication type:
- Article
Haplotype of the Lipoprotein(a) Gene Variants rs10455872 and rs3798220 Is Associated with Parameters of Coagulation, Fibrinolysis, and Inflammation in Patients after Myocardial Infarction and Highly Elevated Lipoprotein(a) Values.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 736, doi. 10.3390/ijms25020736
- By:
- Publication type:
- Article
Craniofacial characteristics and genotypes of amelogenesis imperfecta patients.
- Published in:
- European Journal of Orthodontics, 2011, v. 33, n. 3, p. 325, doi. 10.1093/ejo/cjq089
- By:
- Publication type:
- Article
Personalized laboratory medicine: a patient-centered future approach.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2018, v. 56, n. 12, p. 1981, doi. 10.1515/cclm-2018-0181
- By:
- Publication type:
- Article