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Journal of Medical Genetics|July 24, 2025
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitorsYordi-Michaël Bouhatous, Cecilie Bredrup, Agnes Maurer, et al.Journal of Medical Genetics|March 15, 2011
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinomaBetty Gardie, Audrey Remenieras, Darouna Kattygnarath, et al.The New England Journal of Medicine|February 19, 2015
A randomized, controlled trial of oral propranolol in infantile hemangiomaChristine Léauté-Labrèze, Peter Hoeger, Juliette Mazereeuw-Hautier, et al.Journal of Medical Genetics|May 16, 2020
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like featuresDaphné Lehalle, Pierre Vabres, Arthur Sorlin, et al.British Journal of Cancer|July 10, 2008
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanomaF Lesueur, M de Lichy, M Barrois, et al.The Journal of Investigative Dermatology|October 11, 2018
Large International Validation of ABSIS and PDAI Pemphigus Severity ScoresVivien Hébert, Claire Boulard, Estelle Houivet, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testingPaul Kuentz, Judith St-Onge, Yannis Duffourd, et al.Clinical Genetics|August 14, 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendationsLaurence Faivre, Jean-Charles Crépin, Manon Réda, et al.Nature|October 21, 2011
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinomaCorine Bertolotto, Fabienne Lesueur, Sandy Giuliano, et al.The Journal of Experimental Medicine|October 1, 2024
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseasesJérémie Rosain, Tom Le Voyer, Xian Liu, et al.Pageof 10