Laura Trujillano Lidón
Hospital Universitari Vall d'Hebron Àrea de Genètica Clínica i Molecular
10 papers found
Refreshing results…
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
UploadA Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
Download from doi.orgNatural history of KBG syndrome in a large European cohort
Download from academic.oup.comHigh rate of autonomic neuropathy in Cornelia de Lange Syndrome
Download from doi.orgTargeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome
Download from doi.orgEvaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
Download from doi.orgMissing publications? Search for publications with a matching author name.