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American Journal of Medical Genetics. Part A
|
September 26, 2023
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother
Maria Letizia Minniti, Silvia Kalantari, Ludovica Pasca, et al.
American Journal of Medical Genetics. Part A
|
January 17, 2025
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy
Silvia Kalantari, Daniele Veraldi, Davide Politano, et al.
International Journal of Food Microbiology
|
February 8, 2022
Genetic diversity of Listeria monocytogenes strains contaminating food and food producing environment as single based sample in Italy (retrospective study)
Vicdalia Aniela Acciari, Anna Ruolo, Marina Torresi, et al.
Stem Cell Research
|
April 21, 2018
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene
Manuela Mura, Yee-Ki Lee, Monia Ginevrino, et al.
NPJ Parkinson'S Disease
|
March 4, 2025
Male sex accelerates cognitive decline in GBA1 Parkinson's disease
Silvia Paola Caminiti, Micol Avenali, Alice Galli, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 25, 2016
DYT2 screening in early-onset isolated dystonia
Miryam Carecchio, Chiara Reale, Federica Invernizzi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 30, 2013
PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity
Graziella Madeo, Tommaso Schirinzi, Giuseppina Martella, et al.
Stem Cell Research
|
June 28, 2021
Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene
Eltahir Ali, Rosalba Monica Ferraro, Adele Guglielmi, et al.
Molecular Microbiology
|
July 19, 2016
Cell cycle regulation and novel structural features of thymidine kinase, an essential enzyme in Trypanosoma brucei
Maria Valente, Jennifer Timm, Víctor M Castillo-Acosta, et al.
Neurology
|
January 24, 2020
Age and sex prevalence estimate of Joubert syndrome in Italy
Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, et al.
Page
of 36
Search research articles
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Showing results (171-180 of 358) with videos related to
Sort By:
Page
of 36
American Journal of Medical Genetics. Part A
|
September 26, 2023
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother
Maria Letizia Minniti, Silvia Kalantari, Ludovica Pasca, et al.
American Journal of Medical Genetics. Part A
|
January 17, 2025
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy
Silvia Kalantari, Daniele Veraldi, Davide Politano, et al.
International Journal of Food Microbiology
|
February 8, 2022
Genetic diversity of Listeria monocytogenes strains contaminating food and food producing environment as single based sample in Italy (retrospective study)
Vicdalia Aniela Acciari, Anna Ruolo, Marina Torresi, et al.
Stem Cell Research
|
April 21, 2018
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene
Manuela Mura, Yee-Ki Lee, Monia Ginevrino, et al.
NPJ Parkinson'S Disease
|
March 4, 2025
Male sex accelerates cognitive decline in GBA1 Parkinson's disease
Silvia Paola Caminiti, Micol Avenali, Alice Galli, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 25, 2016
DYT2 screening in early-onset isolated dystonia
Miryam Carecchio, Chiara Reale, Federica Invernizzi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 30, 2013
PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity
Graziella Madeo, Tommaso Schirinzi, Giuseppina Martella, et al.
Stem Cell Research
|
June 28, 2021
Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene
Eltahir Ali, Rosalba Monica Ferraro, Adele Guglielmi, et al.
Molecular Microbiology
|
July 19, 2016
Cell cycle regulation and novel structural features of thymidine kinase, an essential enzyme in Trypanosoma brucei
Maria Valente, Jennifer Timm, Víctor M Castillo-Acosta, et al.
Neurology
|
January 24, 2020
Age and sex prevalence estimate of Joubert syndrome in Italy
Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, et al.
Page
of 36