Feliciano J. Ramos
Universidad de Zaragoza
58 papers found
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A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
Download from doi.orgDelineation of phenotypes and genotypes related to cohesin structural protein RAD21
UploadEvaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
Download from doi.orgCould a patient with SMC1A duplication be classified as a human cohesinopathy?
UploadHuman Variome Project country nodes: Documenting genetic information within a country
Download from www.researchgate.netCornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
Download from link.springer.comThe importance of rare diseases: From the gene to Society
Download from www.researchgate.netFacial Diagnosis of Mild and Variant CdLS: Insights From a Dysmorphologist Survey
Download from www.ncbi.nlm.nih.govCornelia de Lange syndrome: Extending the physical and psychological phenotype
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