Publications by authors named "Roberta Galavotti"

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The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis.
Cristian Andres Carmona-Carmona, Giovanni Bisello, Rossella Franchini, Gianluigi Lunardi, Roberta Galavotti

FEBS J· September 2025

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Plasma Bile Acid Profiling and Modulation of Secreted Mucin 5AC in Cholangiocarcinoma.
Elisa Danese, Patricia M-J Lievens, Andrea Padoan, Denise Peserico, Roberta Galavotti

Int J Mol Sci· August 2023

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Haploidentical hematopoietic stem cell transplantation in a myelofibrosis patient with primary graft failure.
Cristina Tecchio, Angelo Andreini, Claudio Costantini, Alberto Zamò, Donata de Sabata, Roberta Galavotti

Hematol Rep· December 2017

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Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia.
Simone Cesaro, Paola De Filippi, Annamaria Di Meglio, Anna Leszl, Svetlana Donska, Roberta Galavotti

Int J Hematol· February 2014

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Association of childhood allergic asthma with markers flanking the IL33 gene in Italian families.
Francesca Belpinati, Giovanni Malerba, Elisabetta Trabetti, Roberta Galavotti, Luciano Xumerle

J Allergy Clin Immunol· September 2011

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Detection of a large deletion in the P-selectin (SELP) gene.
Alessandra Pasquali, Elisabetta Trabetti, Maria Grazia Romanelli, Roberta Galavotti, Nicola Martinelli

Mol Cell Probes· June 2010

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SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease.
Giovanni Malerba, Linda Schaeffer, Luciano Xumerle, Norman Klopp, Elisabetta Trabetti, Roberta Galavotti

Lipids· April 2008

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A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
Heiko Witt, Miklós Sahin-Tóth, Olfert Landt, Jian-Min Chen, Thilo Kähne, Roberta Galavotti

Nat Genet· June 2006

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