Amale Ichkou

New insights into genotype–phenotype correlation for GLI3 mutations

Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli et al. · European Journal of Human Genetics · 2014 · 121 citations · Full text

Genetics, Genotype–phenotype Correlation, Molecular Genetics +3

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Caroline Alby, Kevin Piquand, Céline Huber et al. · The American Journal of Human Genetics · 2015 · 92 citations · Full text

Molecular Diagnostic Techniques, Mendelian Disorder, Genetic Disorder +9

Antenatal spectrum of CHARGE syndrome in 40 fetuses with <i>CHD7</i> mutations

Marine Legendre, Marie Gonzalès, Géraldine Goudefroye et al. · Journal of Medical Genetics · 2012 · 56 citations

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

Caroline Alby, Valérie Malan, Lucile Boutaud et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2015 · 47 citations

Novel <i>KIF7</i> mutations extend the phenotypic spectrum of acrocallosal syndrome

Audrey Putoux, Sheela Nampoothiri, Nicole Laurent et al. · Journal of Medical Genetics · 2012 · 41 citations