Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

Craniofacial dysmorphology in 22q11.2 deletion syndrome by 3D laser surface imaging and geometric morphometrics: Illuminating the developmental relationship to risk for psychosis

(2015) Sarah Prasad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

(2013) Cristina Gervasini et al.   BMC Medical Genetics

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

(2013) Sarah M Nikkel et al.   Orphanet Journal of Rare Diseases

Facial Dysmorphism Across the Fetal Alcohol Spectrum

(2013) M. Suttie et al.   PEDIATRICS

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

(2012) Silvia Russo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

(2010) Sarika Rohatgi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

(2010) P Castronovo et al.   CLINICAL GENETICS

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes

(2009) C Gervasini et al.   CLINICAL GENETICS