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Clinical Genetics|December 25, 2015
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndromeM Nizon, M Henry, C Michot, et al.European Journal of Cancer (Oxford, England : 1990)|January 1, 2025
Sarcomas developed in patients with Lynch Syndrome are enriched in pleomorphic soft-tissue sarcomas and are sensitive to immunotherapyF Poumeaud, T Valentin, N Fares, et al.Prenatal Diagnosis|January 8, 2014
A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomesJ Besseau-Ayasse, C Violle-Poirsier, A Bazin, et al.Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.Pageof 4