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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
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
DNMT3B rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome.
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- Genes, 2023, v. 14, n. 3, p. 576, doi. 10.3390/genes14030576
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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
Methylenetetrahydrofolate Reductase Dimer Configuration as a Risk Factor for Maternal Meiosis I-Derived Trisomy 21.
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- Human Heredity, 2020, v. 85, n. 2, p. 61, doi. 10.1159/000515121
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- Article
Maternal LINE-1 DNA Methylation and Congenital Heart Defects in Down Syndrome.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00041
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- Article
Mutations in SCN3A cause early infantile epileptic encephalopathy.
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- 2018
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- Publication type:
- journal article
Čimbenici rizika za javljanje intraventrikularnog krvarenja u prijevremeno rođene novorođenčadi u Jedinici novorođenačkog intenzivnog liječenja Klinike za ginekologiju i porodništvo Kliničkog bolničkog centra Rijeka
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- Medicina Fluminensis, 2016, v. 52, n. 4, p. 515, doi. 10.21860/medflum2016_4bil
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- Publication type:
- Article
Altered LINE-1 Methylation in Mothers of Children with Down Syndrome.
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- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0127423
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- Publication type:
- Article
Europski program vanjske kontrole kvalitete rada u citogenetici.
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- Paediatria Croatica, 2013, v. 57, n. 4, p. 365
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- Article
MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome.
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- Pediatrics International, 2011, v. 53, n. 4, p. 546, doi. 10.1111/j.1442-200X.2010.03310.x
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- Publication type:
- Article
Functional inference of methylenetetrahydrofolate reductase gene polymorphisms on enzyme stability as a potential risk factor for Down syndrome in Croatia.
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- Disease Markers, 2010, v. 28, n. 5, p. 293, doi. 10.3233/DMA-2010-0704
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- Publication type:
- Article