Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children
2011 · Orphanet Journal of Rare Diseases · 53 citations
https://doi.org/10.1186/1750-1172-6-12
M
Marisol Mirabelli-Badenier
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20
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502
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12
h-index
12
i10-index
Marisol Mirabelli-Badenier is an academic researcher from University of Genoa. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities & Autoimmune Neurological Disorders and Treatments. The author has an h-index of 12, co-authored 17 publications.
Papers by this author
worksA clinical diagnostic algorithm for early onset cerebellar ataxia
2019 · European Journal of Paediatric Neurology · 42 citations
https://doi.org/10.1016/j.ejpn.2019.08.004
Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems
2012 · BMC Medical Genetics · 40 citations
https://doi.org/10.1186/1471-2350-13-93
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion
2015 · Molecular Cytogenetics · 17 citations
https://doi.org/10.1186/s13039-015-0134-7
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