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Italian Journal of Pediatrics
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November 17, 2018
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know
Mirella Filocamo, Rosella Tomanin, Francesca Bertola, et al.
Genes
|
November 27, 2021
Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia
Giulia Ravasi, Sara Pelucchi, Francesca Bertola, et al.
Neurobiology of Aging
|
February 2, 2013
Analysis of vesicular monoamine transporter 2 polymorphisms in Parkinson's disease
Laura Brighina, Chiara Riva, Francesca Bertola, et al.
Parkinsonism & Related Disorders
|
July 20, 2011
Association analysis of PARP1 polymorphisms with Parkinson's disease
Laura Brighina, Chiara Riva, Francesca Bertola, et al.
American Journal of Human Genetics
|
July 25, 2023
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1
Edoardo Monfrini, Sara Pelucchi, Maija Hollmén, et al.
BMC Pulmonary Medicine
|
November 7, 2025
A novel RTEL1 nonsense variant in a case of familial pulmonary fibrosis: clinical description and genetic implications
Giovanni Franco, Francesca Bertola, Filippo Aloisi, et al.
European Journal of Pediatrics
|
February 28, 2019
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study
Alessandra Zanetti, Francesca D'Avanzo, Laura Rigon, et al.
Frontiers in Pharmacology
|
May 21, 2026
Pilot study on esketamine response in treatment-resistant depression: impact of pharmacogenetic, clinical, and demographic variables
Michaela Krivosova, Matteo Marcatili, Gessica Guerrera, et al.
Neurogenetics
|
April 9, 2024
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
Federico Emanuele Pozzi, Vittoria Aprea, Ginevra Giovannelli, et al.
The Journal of Molecular Diagnostics : JMD
|
March 1, 2025
Impact and Reproducibility of In-House Targeted Next-Generation Sequencing Biomarker Testing in Non-Small-Cell Lung Cancer: An Italian Multi-Institutional Experience
Ida Rapa, Francesca Bertola, Gaia Roversi, et al.
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Search research articles
Search
Showing results (1-10 of 16) with videos related to
Sort By:
Page
of 2
Italian Journal of Pediatrics
|
November 17, 2018
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know
Mirella Filocamo, Rosella Tomanin, Francesca Bertola, et al.
Genes
|
November 27, 2021
Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia
Giulia Ravasi, Sara Pelucchi, Francesca Bertola, et al.
Neurobiology of Aging
|
February 2, 2013
Analysis of vesicular monoamine transporter 2 polymorphisms in Parkinson's disease
Laura Brighina, Chiara Riva, Francesca Bertola, et al.
Parkinsonism & Related Disorders
|
July 20, 2011
Association analysis of PARP1 polymorphisms with Parkinson's disease
Laura Brighina, Chiara Riva, Francesca Bertola, et al.
American Journal of Human Genetics
|
July 25, 2023
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1
Edoardo Monfrini, Sara Pelucchi, Maija Hollmén, et al.
BMC Pulmonary Medicine
|
November 7, 2025
A novel RTEL1 nonsense variant in a case of familial pulmonary fibrosis: clinical description and genetic implications
Giovanni Franco, Francesca Bertola, Filippo Aloisi, et al.
European Journal of Pediatrics
|
February 28, 2019
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study
Alessandra Zanetti, Francesca D'Avanzo, Laura Rigon, et al.
Frontiers in Pharmacology
|
May 21, 2026
Pilot study on esketamine response in treatment-resistant depression: impact of pharmacogenetic, clinical, and demographic variables
Michaela Krivosova, Matteo Marcatili, Gessica Guerrera, et al.
Neurogenetics
|
April 9, 2024
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
Federico Emanuele Pozzi, Vittoria Aprea, Ginevra Giovannelli, et al.
The Journal of Molecular Diagnostics : JMD
|
March 1, 2025
Impact and Reproducibility of In-House Targeted Next-Generation Sequencing Biomarker Testing in Non-Small-Cell Lung Cancer: An Italian Multi-Institutional Experience
Ida Rapa, Francesca Bertola, Gaia Roversi, et al.
Page
of 2