Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Irena, Borgulová"'
Autor:
Marie, Trková, Lenka, Prokopcová, Violeta, Bakardjieva-Mihaylova, Michael, Němec, Irena, Borgulová, Zuzana, Vilímová, Lucie, Dohnalová, Věra, Bečvářová, Martina, Bittóová, Jiří, Horáček, David, Stejskal, Monika, Koudová
Publikováno v:
Ceska gynekologie. 87(2)
Objective: The evaluation of quantitative fluorescence PCR (QF-PCR) and single nucleotide polymorphism array (SNP array) analysis for the identification of chromosomal abnormalities in products of conception (POC). Materials and methods: A total of 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::628c6ffcb36599359bf5d1dd110cf603
https://pubmed.ncbi.nlm.nih.gov/35667861
https://pubmed.ncbi.nlm.nih.gov/35667861
Autor:
Martina Putzová, Jana Neupauerová, Pavel Seeman, Marcela Malíková, Irena Borgulová, Inna Soldatova, Simona Poisson Marková, Marie Trkova
Publikováno v:
Journal of Human Genetics. 63:803-810
Approximately 20 cases of genome-wide uniparental disomy or diploidy (GWUPD) as mosaicism have previously been reported. We present the case of an 11-year-old deaf girl with a paternal uniparental diploidy or isodisomy with a genome-wide loss of hete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b28e8fef1e3d24657953362adda8cc29
https://doi.org/10.1038/s10038-018-0444-9
https://doi.org/10.1038/s10038-018-0444-9
Publikováno v:
Medicina Clínica (English Edition). 150:215-219
To present methodical approach of preimplantation genetic diagnosis (PGD) as an option for an unaffected pregnancy in reproductive-age couples who have a genetic risk of the X-linked dominant peripheral neuropathy Charcot-Marie-Tooth type 1 disease.W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bf372a73cf0d7f351eccb159ccee3ea
https://doi.org/10.1016/j.medcle.2018.01.004
https://doi.org/10.1016/j.medcle.2018.01.004
Publikováno v:
Medicina Clínica. 150:215-219
Resumen Objetivo Presentar un enfoque metodologico del diagnostico genetico preimplantacional (DGP) como opcion para embarazos no afectados en parejas en edad reproductiva con riesgo genetico de neuropatia periferica dominante por enfermedad de Charc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::333274b752d94c0e20d14acc01c3fb9b
https://doi.org/10.1016/j.medcli.2017.06.041
https://doi.org/10.1016/j.medcli.2017.06.041
Autor:
Trková Marie, Prokopcová Lenka, Bakardjieva-Mihaylova Violeta, Němec Michael, Borgulová Irena, Vilímová Zuzana, Dohnalová Lucie, Bečvářová Věra, Bittóová Martina, Horáček Jiří, Stejskal David, Koudová Monika
Publikováno v:
Ceska gynekologie [Ceska Gynekol] 2022; Vol. 87 (2), pp. 104-110.