Fanny Morice-Picard
0000-0002-4316-916X
4 papers found
Refreshing results…
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky‐Pudlak Syndrome
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation
Molecular characterization of a series of 990 index patients with albinism
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
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