Skip to content
Help us to help more people

Cornelia de Lange Syndrome > Publications

Special cases in Cornelia de Lange Syndrome: the Spanish experience

http://www.ncbi.nlm.nih.gov/pubmed/27164022
by Paulino
Researcher

De novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia De Lange Syndrome-Overlapping Phenotypes

http://www.ncbi.nlm.nih.gov/pubmed/25655089
by Paulino
Researcher

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation

http://www.ncbi.nlm.nih.gov/pubmed/24874887
by Paulino
Researcher

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different Next Generation Sequencing approaches

http://www.ncbi.nlm.nih.gov/pubmed/24635725
by Paulino
Researcher