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收藏Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar (vol 7, 70, 2016)
Bloch-Zupan, Agnes; Huckert, Mathilde; Stoetzel, Corinne; Meyer, Julia; Geoffroy, Veronique; Razafindrakoto, Rabisoa W.; Ralison, Saholy N.; Randrianaivo, Jean-Claude; Ralison, Georgette; Andriamasinoro, Rija O.; Famanampamaharane, Rija H.; Randrianazary, Solofomanantsoa E.; Ralimanana, Louise H.; Richards, Beatrice; Gorry, Philippe; Maniere, Marie-Cecile; Rasoamananjara, Jeanne A.; Alson, Simone Rakoto; Dollfus, Helene
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收藏Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar
Bloch-Zupan, Agnes; Huckert, Mathilde; Stoetzel, Corinne; Meyer, Julia; Geoffroy, Veronique; Razafindrakoto, Rabisoa W.; Ralison, Saholy N.; Randrianaivo, Jean-Claude; Ralison, Georgette; Andriamasinoro, Rija O.; Ramanampamaharana, Rija H.; Randrianazary, Solofomanantsoa E.; Richards, Beatrice; Gorry, Philippe; Maniere, Marie-Cecile; Alson, Simone Rakoto; Dollfus, Helene
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收藏Heterozygous mutations in the tumor suppressor gene PATCHED provoke basal cell carcinoma-like features in human organotypic skin cultures
Brellier, F.; Bergoglio, V.; Valin, A.; Barnay, S.; Chevallier-Lagente, O.; Vielh, P.; Spatz, A.; Gorry, P.; Avril, M-F; Magnaldo, T.
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收藏COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
Sibon, Igor; Coupry, Isabelle; Menegon, Patrice; Boucher, Jean-Pierre; Gorry, Philippe; Burgelin, Ingrid; Calvas, Patrick; Orignac, Isabelle; Dousset, Vincent; Lacombe, Didier; Orgogozo, Jean-Marc; Arveiler, Benoit; Goizet, Cyril
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收藏Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients
Stef, Marianne; Simon, Delphine; Mardirossian, Beatrice; Delrue, Marie-Ange; Burgelin, Ingrid; Hubert, Christophe; Marche, Michele; Bonnet, Francoise; Gorry, Philippe; Longy, Michel; Lacombe, Didier; Coupry, Isabelle; Arveiler, Benoit
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收藏Clinical and genetic study in 22 patients with basal cell nevus syndrome
Pruvost-Balland, C; Gorry, P; Boutet, N; Magnaldo, T; Mamelle, G; Margulis, A; Kolb, F; Duvillard, P; Spatz, A; Brugières, L; Chompret, A; Avril, MF
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