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Ophthalmic Genetics|November 25, 2025
Macular and optic nerve hypoplasia in chromosome 2p partial trisomyEva Roomets, Reelika Part, Pille Tammur, et al.
European Journal of Medical Genetics|February 2, 2013
Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literatureOlga Žilina, Tiia Reimand, Pille Tammur, et al.
Molecular Cytogenetics|June 28, 2019
Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case reportOlga Tšuiko, Tuuli Dmitrijeva, Katrin Kask, et al.
European Journal of Medical Genetics|April 25, 2015
De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasisSander Pajusalu, Tiia Reimand, Oivi Uibo, et al.
Molecular Syndromology|January 7, 2016
The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental ConsanguinitySander Pajusalu, Olga Žilina, Maria Yakoreva, et al.
Journal of Cellular Biochemistry|December 16, 2014
Quantitative superresolution microscopy reveals differences in nuclear DNA organization of multiple myeloma and monoclonal gammopathy of undetermined significanceChirawadee Sathitruangsak, Christiaan H Righolt, Ludger Klewes, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experienceOlga Zilina, Rita Teek, Pille Tammur, et al.
Molecular Genetics & Genomic Medicine|February 6, 2020
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiencyHardo Lilleväli, Sander Pajusalu, Monica H Wojcik, et al.
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