University research records
Universidad Francisco de Vitoria
7 imported, source-linked research records. All imported publication dates.
All imported publication dates
Back to university profile →7 matching research records
Topic: Somatic mosaicism. Only records linked to Universidad Francisco de Vitoria are included. Historical ingestion is still running; these are imported records, not a count of all research worldwide.
Showing 1–7 of 7 matching records. Counts update as records arrive.
International Consensus on Differential Diagnosis and Management of Patients With Danon Disease
October 1, 2023 · 70 citations · Open access
Open original record →Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
July 29, 2021 · 23 citations · Open access
Open original record →DLG4-related synaptopathy: a new rare brain disorder
February 20, 2021 · 62 citations · Open access
Open original record →Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
February 8, 2021 · 8 citations · Open access
Open original record →Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
January 28, 2021 · 0 citations · Open access
Open original record →Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
December 1, 2020 · 0 citations · Open access
Open original record →Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
February 4, 2020 · 70 citations · Open access
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