Browsing Liste des unités by Author "Vabres, Pierre"
Now showing items 1-7 of 7
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Clinical and neuroimaging findings in 33 patients with mcap syndrome: a survey to evaluate relevant endpoints for future clinical trials
Garde, Aurore; Guibaud, Laurent; Goldenberg, Alice; et al.Clinical Genetics, 07-01-2021Article dans une revue scientifique -
Limb overgrowth associated with a mosaic tsc2 second-hit in tuberous sclerosis complex
Tessarech, Marine; Malinge, Marie-Claire; Carmignac, Virginie; et al.American Journal of Medical Genetics Part A, 17-08-2020, 182 (11), 2803-2804Article dans une revue scientifique -
The oculoauriculofrontonasal syndrome: further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance
Lehalle, Daphne; Altunoglu, Umut; Bruel, Ange-Line; et al.American journal of medical genetics. Part A, 10-12-2018Article dans une revue scientifique -
Postzygotic inactivating mutations of rhoa cause a mosaic neuroectodermal syndrome
Vabres, Pierre; Sorlin, Arthur; Kholmanskikh, Stanislav S.; et al.Nature Genetics, 30-09-2019Article dans une revue scientifique -
Reverse phenotyping in patients with skin capillary malformations and mosaic gnaq or gna11 mutations defines a clinical spectrum with genotype-phenotype correlation
Jordan, Maud; Carmignac, Virginie; Sorlin, Arthur; et al.The Journal of investigative dermatology, 11-11-2019Article dans une revue scientifique -
Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study.
Luu, M.; Vabres, Pierre; Devilliers, H.; et al.Genetics in Medicine, 17-08-2021Article dans une revue scientifiquefulltext -
Safety and efficacy of low-dose sirolimus in the pik3ca-related overgrowth spectrum
Parker, Victoria E. R.; Keppler-Noreuil, Kim M.; Faivre, Laurence; et al.Genetics in medicine . official journal of the American College of Medical Genetics, 01-10-2018Article dans une revue scientifique