Works by Bertok, Sara
Results: 23
The Role of the MTUS1 Gene in the Development of Left Ventricular Noncompaction Cardiomyopathy—A Case Report.
- Published in:
- Genes, 2025, v. 16, n. 2, p. 110, doi. 10.3390/genes16020110
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- 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.
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- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1134133
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- Article
A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.
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- Human Genetics, 2006, v. 119, n. 1/2, p. 154, doi. 10.1007/s00439-005-0124-7
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- Article
VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03486-2
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- Article
An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature.
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- 2022
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- Publication type:
- Case Study
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
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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
Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.
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- 2018
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- Publication type:
- Case Study
Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0312-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
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
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- Journal of International Medical Research, 2018, v. 46, n. 4, p. 1339, doi. 10.1177/0300060517734123
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- Article
Association of interferon-γ +874A polymorphism with reduced long-term inflammatory response in haemodialysis patients.
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- Nephrology Dialysis Transplantation, 2006, v. 21, n. 5, p. 1317, doi. 10.1093/ndt/gfk033
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- Article
Painful micturition in a small child: an unusual clinical picture of paroxysmal extreme pain disorder.
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- Pediatric Nephrology, 2014, v. 29, n. 9, p. 1643, doi. 10.1007/s00467-014-2819-2
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- Article
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
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- Hormone Research in Paediatrics, 2015, v. 84, n. 3, p. 153, doi. 10.1159/000433468
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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
A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant.
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- 2021
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- Publication type:
- Case Study
Antimongoloid as a pejorative term.
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- 2014
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- Letter to the Editor
A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.
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- 2013
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- Publication type:
- Case Study
Challenges in establishing optimal pediatric palliative care at the university hospital in Slovenia.
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- European Journal of Pediatrics, 2023, v. 182, n. 3, p. 1393, doi. 10.1007/s00431-023-04806-7
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- Article
The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients—The Experience of University Medical Centre, Ljubljana.
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- Life (2075-1729), 2024, v. 14, n. 9, p. 1118, doi. 10.3390/life14091118
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- Article
A New Case of an Extremely Rare 3p21.31 Interstitial Deletion.
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- Molecular Syndromology, 2016, v. 7, n. 2, p. 93, doi. 10.1159/000445227
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- Article
Genetic variant of C1GaIT1 contributes to the susceptibility to IgA nephropathy.
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- Journal of Nephrology (JNonline), 2009, v. 22, n. 1, p. 152
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- Article
Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0274-6
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- Article