Clemence Ragon
Dijon, 21000, France
Last Updated: 09/26/2026
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Found 10 publications
CNV-Hub: an integrated web-based platform for CNV classification and interpretation using multi-algorithm consensus.
Journal: NAR genomics and bioinformatics
Published: March 13, 2025
Alternative climatic steady states near the Permian-Triassic Boundary.
Journal: Scientific reports
Published: August 01, 2024
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Journal: Molecular genetics & genomic medicine
Published: January 21, 2019
6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.
Journal: Molecular cytogenetics
Published: April 24, 2015
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Journal: European journal of human genetics : EJHG
Published: January 29, 2015
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.
Journal: JIMD reports
Published: September 24, 2014
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Journal: American journal of medical genetics. Part A
Published: April 01, 2014
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
Journal: Journal of medical genetics
Published: October 27, 2012
Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.
Journal: American journal of medical genetics. Part A
Published: June 18, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026