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Wyświetlanie 1-8 z 8
Tytuł :
Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.
Autorzy :
Wayhelova M; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
Ryzí M; Clinic of Children's Neurology, University Hospital Brno, Brno, Czech Republic.
Oppelt J; CEITEC-Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
Hladilkova E; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
Vallova V; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
Krskova L; Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
Vilemova M; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
Polackova H; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
Gaillyova R; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
Kuglik P; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic. .; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic. .
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Źródło :
Neurogenetics [Neurogenetics] 2020 Oct; Vol. 21 (4), pp. 269-278. Date of Electronic Publication: 2020 Jun 20.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
Autorzy :
Wayhelova M; Institute of Experimental Biology, Faculty of Science, Masaryk University, Kotlarska 267/2, Brno, Czech Republic. .; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic. .
Smetana J; Institute of Experimental Biology, Faculty of Science, Masaryk University, Kotlarska 267/2, Brno, Czech Republic.; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Vallova V; Institute of Experimental Biology, Faculty of Science, Masaryk University, Kotlarska 267/2, Brno, Czech Republic.; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Hladilkova E; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Filkova H; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Hanakova M; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Vilemova M; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Nikolova P; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Gromesova B; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Gaillyova R; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Kuglik P; Institute of Experimental Biology, Faculty of Science, Masaryk University, Kotlarska 267/2, Brno, Czech Republic.; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
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Źródło :
BMC medical genomics [BMC Med Genomics] 2019 Jul 23; Vol. 12 (1), pp. 111. Date of Electronic Publication: 2019 Jul 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Comparative Genomic Hybridization*
DNA Copy Number Variations*
Oligonucleotide Array Sequence Analysis*
Developmental Disabilities/*genetics
Intellectual Disability/*genetics
Adolescent ; Child ; Child, Preschool ; Cohort Studies ; Czech Republic ; Female ; Humans ; Infant ; Infant, Newborn ; Male
Czasopismo naukowe
Tytuł :
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.
Autorzy :
Wayhelova M; Institute of Experimental Biology, Faculty of Science, Masaryk University, 611 37 Brno, Czech Republic.
Oppelt J; CEITEC‑Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.
Smetana J; Institute of Experimental Biology, Faculty of Science, Masaryk University, 611 37 Brno, Czech Republic.
Hladilkova E; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic.
Filkova H; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic.
Makaturova E; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic.
Nikolova P; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic.
Beharka R; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic.
Gaillyova R; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic.
Kuglik P; Institute of Experimental Biology, Faculty of Science, Masaryk University, 611 37 Brno, Czech Republic.
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Źródło :
Molecular medicine reports [Mol Med Rep] 2019 Jul; Vol. 20 (1), pp. 505-512. Date of Electronic Publication: 2019 May 27.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Developmental Disabilities/*genetics
Microcephaly/*genetics
Muscle Hypotonia/*genetics
Transcription Factors/*genetics
Child ; Female ; Frameshift Mutation ; Humans ; Male ; Pedigree ; Pilot Projects ; Speech Disorders/genetics
Czasopismo naukowe
Tytuł :
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
Autorzy :
Hladilkova E; Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.; Department of Medical Genetics, University Hospital, Children Medical Hospital, Brno, Czech Republic.
Barøy T; Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.
Fannemel M; Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.
Vallova V; Department of Medical Genetics, University Hospital, Children Medical Hospital, Brno, Czech Republic.; Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Kamenice 5, 625 00 Brno - Bohunice, Czech Republic.
Misceo D; Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.
Bryn V; Department of Habilitation, Sykehuset Innlandet HF, Lillehammer, Norway.
Slamova I; Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Kamenice 5, 625 00 Brno - Bohunice, Czech Republic.; Sanatorium Helios ltd., Laboratory of Medical Genetics, Brno, Czech Republic.
Prasilova S; Department of Medical Genetics, University Hospital, Children Medical Hospital, Brno, Czech Republic.
Kuglik P; Department of Medical Genetics, University Hospital, Children Medical Hospital, Brno, Czech Republic.; Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Kamenice 5, 625 00 Brno - Bohunice, Czech Republic.
Frengen E; Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.
Pokaż więcej
Źródło :
Molecular cytogenetics [Mol Cytogenet] 2015 Jul 31; Vol. 8, pp. 57. Date of Electronic Publication: 2015 Jul 31 (Print Publication: 2015).
Typ publikacji :
Case Reports
Raport
    Wyświetlanie 1-8 z 8

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