S. Finck

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

L. Vallée, B. Echenne, M. Cossée, 2006, European Journal of Human Genetics.

Evaluation of prenatal diagnosis by a registry of congenital anomalies

C. Stoll, Y. Alembik, M. Roth, 1992, Prenatal diagnosis.

Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males.

S. Knight, C. Stoll, J. Mandel, 1996, American journal of human genetics.

EcoRl Blots Used for FRAXA Diagnosis: Analysis of Four FRAXE Families with Mild Mental Retardation in Males

S. Knight, D. Lacombe, V. Biancalana, 2007 .