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Publications by Bruno Reversade

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

American Journal of Human Genetics
Genetics
2015English

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Nature Communications
AstronomyGeneticsMolecular BiologyBiochemistryChemistryPhysics
2020English

A Novel Nonsense ATP2C1 Mutation Causes Hailey-Hailey Disease in a Tunisian Family

Our Dermatology Online
2018English

Embryonic Dorsal-Ventral Signaling: Secreted Frizzled-Related Proteins as Inhibitors of Tolloid Proteinases

Cell
BiochemistryGeneticsMolecular Biology
2006English

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