C. Aquaviva

MECP 2 is highly mutated in X-linked mental retardation

H. Ropers, J. Fryns, A. Verloes, 2001 .

MECP2 is highly mutated in X-linked mental retardation.

H. Ropers, J. Fryns, A. Verloes, 2001, Human molecular genetics.

[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management].

P. de Lonlay, D. Cheillan, G. Briand, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Diagnosis of ornithine transcarbamylase deficiency secondary to p.Leu301Phe mutation in an adult patient.

C. Corne, G. Besson, N. Morel, 2012, Revue neurologique.