Found: 14
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An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13076, doi. 10.3390/ijms232113076
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- Article
Csecsemõkori epilepszia ritka genetikai okai (esetismertetések).
- Published in:
- Gyermekgyógyászat, 2020, v. 71, n. 6, p. 385
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- Article
Detection of internal tandem duplications in the FLT3 gene by different electrophoretic methods.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2012, v. 50, n. 2, p. 301, doi. 10.1515/cclm.2011.762
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- Article
A magyar Cystás Fibrosis Regiszter genetikai revíziója.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2022, v. 163, n. 51, p. 2052, doi. 10.1556/650.2022.32655
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- Article
Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.
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- Biomolecules (2218-273X), 2021, v. 11, n. 8, p. 1228, doi. 10.3390/biom11081228
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- Article
Autoantibodies to novel membrane and cytosolic antigens of the lachrymal gland in primary Sjögren’s syndrome.
- Published in:
- Clinical Rheumatology, 2008, v. 27, n. 2, p. 195, doi. 10.1007/s10067-007-0678-y
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- Article
Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.
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- BMC Genomics, 2018, v. 19, p. 1, doi. 10.1186/s12864-018-4544-x
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- Article
Subcellular localization of sterol biosynthesis enzymes.
- Published in:
- Journal of Molecular Histology, 2019, v. 50, n. 1, p. 63, doi. 10.1007/s10735-018-9807-y
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- Article
Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing.
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- 2018
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- Publication type:
- journal article
Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.
- Published in:
- Genes, 2022, v. 13, n. 12, p. 2367, doi. 10.3390/genes13122367
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- Publication type:
- Article
Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study.
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- Genes, 2022, v. 13, n. 11, p. 2086, doi. 10.3390/genes13112086
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- Article
Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum/Molekularna Analiza Obolelih Od Cistične Fibroze U Mađarskoj - Dopune Spektru Mutacija.
- Published in:
- Journal of Medical Biochemistry, 2014, v. 34, n. 1, p. 46, doi. 10.2478/jomb-2014-0055
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- Article
Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 20, p. 15334, doi. 10.3390/ijms242015334
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- Article
Genetic counselling legislation and practice in cancer in EU Member States.
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- European Journal of Public Health, 2024, v. 34, n. 4, p. 666, doi. 10.1093/eurpub/ckae093
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- Article