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Przeglad Lekarski|July 15, 2014
[Familial case of oral-facial-digital syndrome type 1 (OFD 1)]Monika Miklaszewska, Katarzyna Zachwieja, Izabela Herman-Sucharska, et al.
Journal of Molecular Medicine (Berlin, Germany)|January 21, 2021
Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variantAgnieszka Halas, Jolanta Fijak-Moskal, Renata Kuberska, et al.
Frontiers in Immunology|December 6, 2021
Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and ImmunodeficiencyAnna Hogendorf, Maciej Zieliński, Maria Constantinou, et al.
Genes|December 24, 2021
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital MicrocephalyMateusz Dawidziuk, Tomasz Gambin, Ewelina Bukowska-Olech, et al.
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