Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome
Hancarova, Miroslava, Havlovicova, Marketa, Putzova, Martina, Vseticka, Jan, Prchalova, Darina, Stranecky, Viktor, Sedlacek, Zdenek
Published in American journal of medical genetics. Part A (01.10.2019)
Published in American journal of medical genetics. Part A (01.10.2019)
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Mutation analysis of TRPS1 gene including core promoter, 5′UTR, and 3′UTR regulatory sequences with insight into their organization
Solc, Roman, Klugerova, Michaela, Vcelak, Josef, Baxova, Alice, Kuklik, Miloslav, Vseticka, Jan, Beharka, Rastislav, Hirschfeldova, Katerina
Published in Clinica chimica acta (01.01.2017)
Published in Clinica chimica acta (01.01.2017)
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Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers
Tesner, Pavel, Vlckova, Marketa, Drabova, Jana, Vseticka, Jan, Klimova, Anna, Lastuvkova, Jana, Zidovska, Jana, Kremlikova Pourova, Radka, Hancarova, Miroslava, Sedlacek, Zdenek, Kocarek, Eduard
Published in Cytogenetic and genome research (01.01.2018)
Published in Cytogenetic and genome research (01.01.2018)
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Journal Article
Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization
Solc, Roman, Klugerova, Michaela, Vcelak, Josef, Baxova, Alice, Kuklik, Miloslav, Vseticka, Jan, Beharka, Rastislav, Hirschfeldova, Katerina
Published in Clinica chimica acta (01.01.2017)
Published in Clinica chimica acta (01.01.2017)
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Ultrasound diagnosis of severe mesomelic dysplasia in two fetuses, associated with increased neck translucency and tetralogy of Fallot in one and cystic hygroma in the other
Vseticka, Jan, Gattnarova, Zuzana, Marik, Ivo, Kozlowski, Kazimierz
Published in American journal of medical genetics. Part A (01.04.2010)
Published in American journal of medical genetics. Part A (01.04.2010)
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