Concepedia
Statistics
Publications
27
Citations
1.4K
H-Index
17
Active since
2013
Affiliations
University of Bologna(Current)
Istituto delle Scienze Neurologiche di Bologna
IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola
Istituti di Ricovero e Cura a Carattere Scientifico
Technical University of Munich
Flavia Palombo is an author at University of Bologna specializing in genetics, molecular genetics, and life sciences.
Publications per year
2013–2024
Mutations in the mammalian target of rapamycin pathway regulators <i>NPRL2</i> and <i>NPRL3</i> cause focal epilepsy
Michael G. Ricos, Bree Hodgson, Tommaso Pippucci et al. · Annals of Neurology · 2015 · 236 citations · Full text
Medicine, Genetics, Molecular Genetics +16
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
Sarah L. Stenton, Claudia B. Catarino, N.A. Andreeva et al. · Journal of Clinical Investigation · 2021 · 151 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
<i>H</i> 3 <i>M</i> 2 : detection of runs of homozygosity from whole-exome sequencing data
Alberto Magi, Lorenzo Tattini, Flavia Palombo et al. · Bioinformatics · 2014 · 105 citations · Full text
Clinical and pathogenic features of <i>ETV6</i> -related thrombocytopenia with predisposition to acute lymphoblastic leukemia
Federica Melazzini, Flavia Palombo, Alessandra Balduini et al. · Haematologica · 2016 · 105 citations · Full text
Medicine, Genetics, Hematology +13
A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy
Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo et al. · PLoS ONE · 2013 · 97 citations · Full text
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