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Cells
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December 23, 2022
Gain- and Loss-of-Function <i>CFTR</i> Alleles Are Associated with COVID-19 Clinical Outcomes
Margherita Baldassarri, Kristina Zguro, Valeria Tomati, et al.
American Journal of Medical Genetics. Part A
|
October 10, 2022
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients
Lucia Pia Bruno, Gabriella Doddato, Margherita Baldassarri, et al.
Revista Brasileira De Psiquiatria (Sao Paulo, Brazil : 1999)
|
July 26, 2022
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder
Flavia Privitera, Maria A Trusso, Floriana Valentino, et al.
Brain & Development
|
January 13, 2016
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation
Anna Maria Pinto, Laura Bianciardi, Maria Antonietta Mencarelli, et al.
Ebiomedicine
|
December 9, 2022
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma
Ferdinando Bonfiglio, Vito Alessandro Lasorsa, Sueva Cantalupo, et al.
Human Genomics
|
November 6, 2024
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data
Ferdinando Bonfiglio, Andrea Legati, Vito Alessandro Lasorsa, et al.
European Journal of Human Genetics : EJHG
|
January 18, 2023
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
Sergio Daga, Francesco Donati, Katia Capitani, et al.
European Journal of Human Genetics : EJHG
|
November 23, 2019
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
Sergio Daga, Francesco Donati, Katia Capitani, et al.
Circulation. Arrhythmia and Electrophysiology
|
June 18, 2021
Proton Pump Inhibitors Directly Block hERG-Potassium Channel and Independently Increase the Risk of QTc Prolongation in a Large Cohort of US Veterans
Pietro Enea Lazzerini, Alessandra Cartocci, Yongxia Sarah Qu, et al.
Plos One
|
March 8, 2013
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing
Elisa Grillo, Caterina Lo Rizzo, Laura Bianciardi, et al.
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Search research articles
Search
Showing results (71-80 of 109) with videos related to
Sort By:
Page
of 11
Cells
|
December 23, 2022
Gain- and Loss-of-Function <i>CFTR</i> Alleles Are Associated with COVID-19 Clinical Outcomes
Margherita Baldassarri, Kristina Zguro, Valeria Tomati, et al.
American Journal of Medical Genetics. Part A
|
October 10, 2022
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients
Lucia Pia Bruno, Gabriella Doddato, Margherita Baldassarri, et al.
Revista Brasileira De Psiquiatria (Sao Paulo, Brazil : 1999)
|
July 26, 2022
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder
Flavia Privitera, Maria A Trusso, Floriana Valentino, et al.
Brain & Development
|
January 13, 2016
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation
Anna Maria Pinto, Laura Bianciardi, Maria Antonietta Mencarelli, et al.
Ebiomedicine
|
December 9, 2022
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma
Ferdinando Bonfiglio, Vito Alessandro Lasorsa, Sueva Cantalupo, et al.
Human Genomics
|
November 6, 2024
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data
Ferdinando Bonfiglio, Andrea Legati, Vito Alessandro Lasorsa, et al.
European Journal of Human Genetics : EJHG
|
January 18, 2023
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
Sergio Daga, Francesco Donati, Katia Capitani, et al.
European Journal of Human Genetics : EJHG
|
November 23, 2019
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
Sergio Daga, Francesco Donati, Katia Capitani, et al.
Circulation. Arrhythmia and Electrophysiology
|
June 18, 2021
Proton Pump Inhibitors Directly Block hERG-Potassium Channel and Independently Increase the Risk of QTc Prolongation in a Large Cohort of US Veterans
Pietro Enea Lazzerini, Alessandra Cartocci, Yongxia Sarah Qu, et al.
Plos One
|
March 8, 2013
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing
Elisa Grillo, Caterina Lo Rizzo, Laura Bianciardi, et al.
Page
of 11