Concepedia

Roberta Bottega

RB

17

Publications

774

Citations

15

H-Index

2010

Active since

Affiliations

IRCCS Materno Infantile Burlo Garofolo(Current)

University of Trieste

University of Pavia

Istituti di Ricovero e Cura a Carattere Scientifico

Istituto Giannina Gaslini

Roberta Bottega is an author at IRCCS Materno Infantile Burlo Garofolo specializing in medicine, genetics, and molecular diagnostics.

ORCID

Top concepts

Publications per year

2010–2022

17

Publications

17

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

Anna Savoia, Alessandro Pastore, Daniela De Rocco et al. · Haematologica · 2010 · 105 citations · Full text

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb  (Bolzano mutation)

Patrizia Noris, Silverio Perrotta, Roberta Bottega et al. · Haematologica · 2011 · 103 citations · Full text

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Patrizia Noris, Nicole Schlegel, Catherine Klersy et al. · Haematologica · 2014 · 76 citations · Full text

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

Roberta Bottega, Caterina Marconi, Michela Faleschini et al. · Blood · 2014 · 67 citations · Full text

Defects in mitochondrial energetic function compels Fanconi Anaemia cells to glycolytic metabolism

Enrico Cappelli, Paola Cuccarolo, Giorgia Stroppiana et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2017 · 60 citations

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