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Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations
Názov Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations Autor Kolesár P. Spoluautori Minárik G. Baldovic M. Ficek Andrej SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Kovacs L. Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Zdroj.dok. General physiology and biophysics : an international journal. Vol. 27, no. 4 (2008 ), p. 299-305 Jazyk dok. eng - angličtina Krajina SK - Slovenská republika Druh dok. rozpis článkov z periodík (rbx) Ohlasy IVADY, Gergely - MADAR, Laszlo - NAGY, Bela - GONCZIC, Ferenc - AJZNER, Eva - DZSUDZSAK, Erika - DVORAKOVA, Lenka - GOMBOS, Eva - KAPPELMAYER, Janos - MACEK, Milan - BALOGH, Istvan. Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis. In JOURNAL OF CYSTIC FIBROSIS. ISSN 1569-1993, 2011, vol. 10, no. 3, pp. 217-220. INDIKA, Neluwa Liyanage Ruwan - VIDANAPATHIRANA, Dinesha Maduri - DILANTHI, Hewa Warawitage - KULARATNAM, Grace Angeline Malarnangai - CHANDRASIRI, Nambage Dona Priyani Dhammika - JASINGE, Eresha. Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka. In BMC MEDICAL GENETICS. ISSN 1471-2350, 2019, vol. 20, no., pp. MOLINA, Marta - YOLDI, Alberto - NAVAS, Purificacion - GANAN, Miguel - VAQUERO, Angel - DEL PICO, Jose L. - RAMIREZ, Juan P. - CASTILLA, Jose A. Carriers of cystic fibrosis among sperm donors: complete CFTR gene analysis versus CFTR genotyping. In FERTILITY AND STERILITY. ISSN 0015-0282, 2020, vol. 114, no. 3, pp. 524-534. Dostupné na: https://doi.org/10.1016/j.fertnstert.2020.04.016. MEKKI, Chadia - AISSAT, Abdel - MIRLESSE, Veronique - LACROSNIERE, Sophie Mayer - ECHE, Elsa - LE FLOCH, Annick - WHALEN, Sandra - PRUD'HOMME, Cecile - REMUS, Christelle - FUNALOT, Benoit - CASTAIGNE, Vanina - FANEN, Pascale - DE BECDELIEVRE, Alix. Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed? In GENES, 2021, vol. 12, no. 5, pp. Dostupné na: https://doi.org/10.3390/genes12050670. Kategória ADDA - Vedecké práce v domácich karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2008 Registrované v WOS Registrované v SCOPUS Registrované v CCC 
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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) 2008 2007 1.286 Q3 0.391 Q2
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