Croatian medical journal
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Croatian medical journal · Jun 2024
Historical ArticleOccurrence of metopic suture in modern and archaeological Croatian population.
To determine the incidence of metopism in the modern and archaeological Croatian population. ⋯ There are no visible secular changes on metopic suture in the Croatian population through time. Some variations can be the result of differences in sample size in different time periods.
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Croatian medical journal · Jun 2024
Non-invasive prenatal testing of beta-hemoglobinopathies using next generation sequencing, in-silico sequence size selection, and haplotyping.
To develop a non-invasive prenatal test for beta-hemoglobinopathies based on analyzing maternal plasma by using next generation sequencing. ⋯ The combined use of ISS and HBB haplotypes enabled us to correctly predict fetal genotypes in cases where the prediction based on variant read ratios alone was incorrect.
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Croatian medical journal · Jun 2024
Precise identification of cascading alpha satellite higher order repeats in T2T-CHM13 assembly of human chromosome 3.
To precisely identify and analyze alpha-satellite higher-order repeats (HORs) in T2T-CHM13 assembly of human chromosome 3. ⋯ Our findings emphasize the complexity within the chromosome 3 centromere as well as deviations from expected highly regular patterns.
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Croatian medical journal · Jun 2024
Pregnant couples' attitude toward extended pre-conceptional genomic screening.
To determine the attitudes of pregnant couples toward carrier screening genomic tests. ⋯ Most respondents expressed considerable interest in receiving information about their carrier status through genetic tests.
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Croatian medical journal · Jun 2024
Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.
To determine the spectrum and frequency of disease-causing variants in patients with non-syndromic hearing loss (NSHL) and to investigate the diagnostic yield of the applied genetic methods. ⋯ We were able to elucidate the genetic cause of hearing loss in 121 patients, with an overall diagnostic rate of 39.5%. The c.35delG was the most common variant. CES allowed us to diagnose almost half of the patients with HL; to distinguish NSHL from the syndromic form of HL in cases where the phenotype was unclear or where symptoms were absent from an early age; and to discover novel variants.