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Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome
(Journal of Investigative Dermatology. vol. 121, n° 3, pp. 478-481, 2003-09)Article de revue -
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
(Annals of Neurology. vol. 62, n° 2, pp. 177-184, 2007-08)Article de revue -
Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients
(European Journal of Human Genetics. vol. 15, n° 8, pp. 843-847, 2007-08)Article de revue