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Annals of Human Genetics
|
April 14, 2020
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
Fabio Gotta, Merit Lamp, Alessandro Geroldi, et al.
Human Molecular Genetics
|
August 22, 2022
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts
Paola Zanfardino, Giovanna Longo, Alessandro Amati, et al.
Infectious Diseases and Therapy
|
April 10, 2025
Burden and Outcomes of Severe Lower Respiratory Tract Infections with Unknown Etiology: A Retrospective Observational Study on Epidemiological Trends Over an 8-Year Period (2016-2024)
Giovanni Scaglione, Marta Canuti, Martina Offer, et al.
Emerging Infectious Diseases
|
April 18, 2025
Increased Pneumonia-Related Emergency Department Visits, Northern Italy
Simone Villa, Manuel Maffeo, Mauro Maistrello, et al.
Cells
|
June 10, 2022
Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease
Stefano Doccini, Maria Marchese, Federica Morani, et al.
Cell Death Discovery
|
April 8, 2020
Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction
Stefano Doccini, Federica Morani, Claudia Nesti, et al.
Emerging Infectious Diseases
|
January 7, 2026
Reduced Emergency Department Visits and Hospitalizations in Infants after Universal Respiratory Syncytial Virus Immunization, Italy, 2024-25
Simone Villa, Simona Scarioni, Enrico Pigozzi, et al.
Neurobiology of Disease
|
April 29, 2020
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly
Michela Di Nottia, Maria Marchese, Daniela Verrigni, et al.
Orphanet Journal of Rare Diseases
|
September 28, 2018
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
Guja Astrea, Alessandro Romano, Corrado Angelini, et al.
International Journal of Cancer
|
November 5, 2020
Common gene variants within 3'-untranslated regions as modulators of multiple myeloma risk and survival
Ombretta Melaiu, Angelica Macauda, Juan Sainz, et al.
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Search research articles
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Showing results (31-40 of 40) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 40 results.
Annals of Human Genetics
|
April 14, 2020
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
Fabio Gotta, Merit Lamp, Alessandro Geroldi, et al.
Human Molecular Genetics
|
August 22, 2022
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts
Paola Zanfardino, Giovanna Longo, Alessandro Amati, et al.
Infectious Diseases and Therapy
|
April 10, 2025
Burden and Outcomes of Severe Lower Respiratory Tract Infections with Unknown Etiology: A Retrospective Observational Study on Epidemiological Trends Over an 8-Year Period (2016-2024)
Giovanni Scaglione, Marta Canuti, Martina Offer, et al.
Emerging Infectious Diseases
|
April 18, 2025
Increased Pneumonia-Related Emergency Department Visits, Northern Italy
Simone Villa, Manuel Maffeo, Mauro Maistrello, et al.
Cells
|
June 10, 2022
Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease
Stefano Doccini, Maria Marchese, Federica Morani, et al.
Cell Death Discovery
|
April 8, 2020
Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction
Stefano Doccini, Federica Morani, Claudia Nesti, et al.
Emerging Infectious Diseases
|
January 7, 2026
Reduced Emergency Department Visits and Hospitalizations in Infants after Universal Respiratory Syncytial Virus Immunization, Italy, 2024-25
Simone Villa, Simona Scarioni, Enrico Pigozzi, et al.
Neurobiology of Disease
|
April 29, 2020
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly
Michela Di Nottia, Maria Marchese, Daniela Verrigni, et al.
Orphanet Journal of Rare Diseases
|
September 28, 2018
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
Guja Astrea, Alessandro Romano, Corrado Angelini, et al.
International Journal of Cancer
|
November 5, 2020
Common gene variants within 3'-untranslated regions as modulators of multiple myeloma risk and survival
Ombretta Melaiu, Angelica Macauda, Juan Sainz, et al.
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of 4