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Identification of structural variation from NGS-based non-invasive prenatal testing
Title Identification of structural variation from NGS-based non-invasive prenatal testing Author Pos Ondrej Co-authors Budiš J. Pös Zuzana SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV ORCID Kucharík Marcel Ďuriš F. Radvánszky Ján 1982- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV Szemes Tomáš Source document International Journal of Molecular Sciences. Vol. 20, (2019), art.no. 4403 Language eng - English Document kind rozpis článkov z periodík (rbx) Citations NAGY, Balint. Cell-Free Nucleic Acids. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2019, vol. 20, no. 22, pp. PEI, Y.Y. - HU, L. - LIU, J.X. - WEN, L.J. - LUO, X.J. - LU, J. - WEI, F.X. Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes. In MOLECULAR GENETICS & GENOMIC MEDICINE. ISSN 2324-9269, AUG 2020, vol. 8, no. 8. MORSHNEVA, A. - KOZYULINA, P. - VASHUKOVA, E. - TARASENKO, O. - DVOYNOVA, N. - CHENTSOVA, A. - TALANTOVA, O. - KOROTEEV, A. - IVANOV, D. - SEREBRYAKOVA, E. - IVASHCHENKO, T. - SUKHOMYASOVA, A. - MAKSIMOVA, N. - BESPALOVA, O. - KOGAN, I. - BARANOV, V. - GLOTOV, A. Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination. In GENES. MAY 2021, vol. 12, no. 5. ALI, T.M. - MATEU-BRULL, E. - BALAGUER, N. - DANTAS, C. - BORGES, H.R. - DE OLIVEIRA, M.Q.G. - RODRIGO, L. - CAMPOS-GALINDO, I. - NAVARRO, R. - MILAN, M. Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report. In EUROPEAN JOURNAL OF MEDICAL RESEARCH. ISSN 0949-2321, JUN 29 2021, vol. 26, no. 1. Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2019 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.3390/ijms20184403 
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Názov súboru Prístup Veľkosť Stiahnuté Typ Licence Identification of structural variation from NGS-based non-invasive prenatal testing..pdf Prístupný 832.8 KB 0 Vydavateľská verzia rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2019 2018 4.183 Q2 1.312 Q1
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