C Schluth

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome

Elisabeth Flori, Emmanuelle Girodon, Brigitte Samama et al. · European Journal of Human Genetics · 2005 · 38 citations · Full text

Developmental Anomaly, Genetic Disorder, Genetics +4

Phenotype in X chromosome rearrangements: pitfalls of X inactivation study

C Schluth, Mireille Cossée, Françoise Girard‐Lemaire et al. · Pathologie Biologie · 2006 · 23 citations

Chromatin, Genome Instability, Chromosome Dynamics +9

New case of interstitial deletion 12(q15‐q21.2) in a girl with facial dysmorphism and mental retardation

C Schluth, Roselyne Gesny, Guntram Borck et al. · American Journal of Medical Genetics Part A · 2007 · 21 citations

Functional analysis of the NUP98-CCDC28A fusion protein

Arnaud Petit, Christine Ragu, G. Soler et al. · Haematologica · 2011 · 16 citations · Full text

Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literature.

Bérénice Doray, R. Favre, B. Gasser et al. · PubMed · 2003 · 12 citations

Brain Development, Genetics, Gynecology +18