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Cornelia de Lange syndrom > Publikace

Special cases in Cornelia de Lange Syndrome: the Spanish experience

http://www.ncbi.nlm.nih.gov/pubmed/27164022
podle Paulino
Vědecký pracovník

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

http://www.ncbi.nlm.nih.gov/pubmed/25655089
podle Paulino
Vědecký pracovník

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

http://www.ncbi.nlm.nih.gov/pubmed/24874887
podle Paulino
Vědecký pracovník

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
podle Paulino
Vědecký pracovník