Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
2009 · Orphanet Journal of Rare Diseases · 141 citations
https://doi.org/10.1186/1750-1172-4-25
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Stefania Gimelli
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Stefania Gimelli is an academic researcher from University Hospital of Geneva. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Chromosomal and Genetic Variations & Congenital heart defects research. The author has an h-index of 33, co-authored 81 publications.
Papers by this author
worksMicroarray 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
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
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
2016 · Human Genomics · 31 citations
https://doi.org/10.1186/s40246-016-0080-4
The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma
2009 · Molecular Cancer · 26 citations
https://doi.org/10.1186/1476-4598-8-52
A rare 3q13.31 microdeletion including GAP43 and LSAMP genes
2013 · Molecular Cytogenetics · 10 citations
https://doi.org/10.1186/1755-8166-6-52
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