Stefania Gimelli
Geneve, GE, Switzerland
Last Updated: 09/26/2026
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Found 38 publications
Hyaline Cartilage Microtissues Engineered from Adult Dedifferentiated Chondrocytes: Safety and Role of WNT Signaling.
Journal: Stem cells translational medicine
Published: March 23, 2022
Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor.
Journal: Stem cell research
Published: July 07, 2020
MECP2 duplication syndrome in a patient from Cameroon.
Journal: American journal of medical genetics. Part A
Published: May 22, 2019
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.
Journal: Orphanet journal of rare diseases
Published: October 02, 2018
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
Journal: Journal of human genetics
Published: January 12, 2018
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation.
Journal: International journal of molecular sciences
Published: February 07, 2017
Heterozygous Deletion of Chorein Exons 70-73 and GNA14 Exons 3-7 in a Brazilian Patient Presenting With Probable Tau-Negative Early-Onset Alzheimer Disease.
Journal: Alzheimer disease and associated disorders
Published: January 13, 2017
Assessment of copy number variations in 120 patients with Poland syndrome.
Journal: BMC medical genetics
Published: August 04, 2016
Heterozygous Chorein Deficiency in Probable Tau-negative Early-onset Alzheimer Disease.
Journal: Alzheimer disease and associated disorders
Published: January 31, 2016
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
Journal: Human genomics
Published: December 09, 2015
Last Updated: 09/26/2026