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Molecular Medicine Reports|June 11, 2019
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delayMarketa Wayhelova, Jan Oppelt, Jan Smetana, et al.
Frontiers in Genetics|November 15, 2021
Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the PhenotypeJan Smetana, Vladimira Vallova, Marketa Wayhelova, et al.
Journal of Human Genetics|November 25, 2021
Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual developmentMarketa Wayhelova, Vladimira Vallova, Petr Broz, et al.
Epidemiologie, Mikrobiologie, Imunologie : Casopis Spolecnosti Pro Epidemiologii a Mikrobiologii Ceske Lekarske Spolecnosti J.E. Purkyne|October 15, 2013
[Treponema pallidum subspecies pallidum -- the causative agent of neurosyphilis]Miloslav Salavec, Vanda Boštíková, Zuzana Vaňásková, et al.
Molecular Medicine Reports|April 13, 2023
A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case reportMarketa Wayhelova, Vladimira Vallova, Petr Broz, et al.
Orphanet Journal of Rare Diseases|February 6, 2024
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disordersMarketa Wayhelova, Vladimira Vallova, Petr Broz, et al.
Journal of Applied Biomedicine|March 20, 2024
Rapid triage and transfer system for patients with proven Covid-19 at emergency departmentMartin Jakl, Jana Berkova, Tomas Veleta, et al.
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