University research records
Université de Tours
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 Université de Tours 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.
French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations
January 13, 2023 · 19 citations · Open access
Open original record →Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models
December 6, 2022 · 3 citations · Open access
Open original record →Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
April 8, 2021 · 31 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 →DLG4-related synaptopathy: a new rare brain disorder
February 20, 2021 · 62 citations · Open access
Open original record →IDH mutation status in a series of 88 head and neck chondrosarcomas: different profile between tumors of the skull base and tumors involving the facial skeleton and the laryngotracheal tract
October 5, 2018 · 47 citations · Open access
Open original record →Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: a retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions
February 1, 2013 · 113 citations · Open access
Open original record →The evolution of infrahissian conduction time in myotonic dystrophy patients: clinical implications
October 29, 2011 · 34 citations · Open access
Open original record →Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements
July 6, 2009 · 59 citations · Open access
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