A.L. Mosca

Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping the Goldenhar syndrome

Patrick Callier, Laurence Faivre, Christel Thauvin‐Robinet et al. · American Journal of Medical Genetics Part A · 2008 · 32 citations

Life Sciences, Genetics, Molecular Genetics +17

Molecular characterization of 39 <i>de novo</i><scp>sSMC</scp>: contribution to prognosis and genetic counselling, a prospective study

Nathalie Marle, Danielle Martinet, Azzedine Aboura et al. · Clinical Genetics · 2013 · 26 citations

Life Sciences, Genetics, Molecular Genetics +17

Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication

A.L. Mosca, Patrick Callier, Laurence Faivre et al. · American Journal of Medical Genetics Part A · 2009 · 16 citations

Life Sciences, Genetics, Molecular Genetics +17

Detection of an interstitial 3q21.1‐q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia

Patrick Callier, Laurence Faivre, Nathalie Marle et al. · American Journal of Medical Genetics Part A · 2009 · 15 citations

Life Sciences, Genetics, Pediatrics +16

Cytogenetic and array‐CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndrome

A.L. Mosca, Patrick Callier, Alice Masurel‐Paulet et al. · American Journal of Medical Genetics Part A · 2010 · 15 citations

Life Sciences, Genetics, Molecular Genetics +10