University research records
Warsaw University of Technology
9 imported, source-linked research records. Open-access records.
Open-access records
Back to university profile →9 matching research records
Topic: Somatic mosaicism. Only records linked to Warsaw University of Technology are included. Historical ingestion is still running; these are imported records, not a count of all research worldwide.
Showing 1–9 of 9 matching records. Counts update as records arrive.
Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather
June 21, 2025 · 2 citations · Open access
Open original record →SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia
April 8, 2023 · 3 citations · Open access
Open original record →SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia
March 2, 2023 · 0 citations · Open access
Open original record →High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV
September 20, 2022 · 6 citations · Open access
Open original record →Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset
December 20, 2021 · 35 citations · Open access
Open original record →Detection of Low-Level Parental Somatic Mosaicism for Clinically Relevant Snvs and Indels Identified in a Large Exome Sequencing Dataset
November 1, 2021 · 1 citations · Open access
Open original record →Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
July 12, 2020 · 63 citations · Open access
Open original record →Identification of novel candidate disease genes from de novo exonic copy number variants
September 21, 2017 · 58 citations · Open access
Open original record →Lessons learned from additional research analyses of unsolved clinical exome cases
March 21, 2017 · 244 citations · Open access
Open original record →