Université de Rouen Normandie
13 imported, source-linked research records. All imported publication dates.
13 matching research records
Topic: Somatic mosaicism. Only records linked to Université de Rouen Normandie are included. Historical ingestion is still running; these are imported records, not a count of all research worldwide.
Showing 1–13 of 13 matching records. Counts update as records arrive.
Neoantigenic properties of TP53 variants modify cancer risk in individuals with Li-Fraumeni syndrome
June 24, 2025 · 0 citations · Open access
Open original record →Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature
May 10, 2025 · 4 citations · Open access
Open original record →Update on Surveillance Guidelines in Emerging Wilms Tumor Predisposition Syndromes
October 28, 2024 · 14 citations · Open access
Open original record →Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics
September 8, 2024 · 7 citations · Open access
Open original record →Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
March 4, 2024 · 9 citations · Open access
Open original record →Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
December 1, 2021 · 18 citations · Open access
Open original record →Severe Phenotype in Patients with Large Deletions of NF1
June 13, 2021 · 39 citations · Open access
Open original record →Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
April 5, 2021 · 66 citations · Open access
Open original record →Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
January 20, 2021 · 36 citations · Open access
Open original record →Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas
December 1, 2019 · 6 citations · Open access
Open original record →The role of de novo mutations in adult-onset neurodegenerative disorders
November 26, 2018 · 53 citations · Open access
Open original record →Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly
November 2, 2010 · 56 citations · Open access
Open original record →Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome
June 12, 2007 · 66 citations · Open access
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