Search research articles
Contact Us
Filters
Showing results (101-110 of 135) with videos related to
Page
of 14
Sort By:
Proceedings of the National Academy of Sciences of the United States of America
|
March 16, 2026
Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2
Michelle Møhlenberg, Sofie Eg Jørgensen, Renée Marije van der Sluis, et al.
Nature Communications
|
September 3, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 22, 2019
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Beatriz De la Casa-Fages, Gorka Fernández-Eulate, Josep Gamez, et al.
Brain : a Journal of Neurology
|
May 29, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications
Tim W Rattay, Tobias Lindig, Jonathan Baets, et al.
Ebiomedicine
|
April 19, 2021
Epigenome-wide association study of COVID-19 severity with respiratory failure
Manuel Castro de Moura, Veronica Davalos, Laura Planas-Serra, et al.
Neurology
|
January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Agatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, et al.
Genome Medicine
|
September 7, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, et al.
Brain : a Journal of Neurology
|
August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Edgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
Journal of Inherited Metabolic Disease
|
July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutations
Nadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.
Ebiomedicine
|
March 1, 2021
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
Margherita Baldassarri, Nicola Picchiotti, Francesca Fava, et al.
Page
of 14
Search research articles
Search
Showing results (101-110 of 135) with videos related to
Sort By:
Page
of 14
Proceedings of the National Academy of Sciences of the United States of America
|
March 16, 2026
Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2
Michelle Møhlenberg, Sofie Eg Jørgensen, Renée Marije van der Sluis, et al.
Nature Communications
|
September 3, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 22, 2019
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Beatriz De la Casa-Fages, Gorka Fernández-Eulate, Josep Gamez, et al.
Brain : a Journal of Neurology
|
May 29, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications
Tim W Rattay, Tobias Lindig, Jonathan Baets, et al.
Ebiomedicine
|
April 19, 2021
Epigenome-wide association study of COVID-19 severity with respiratory failure
Manuel Castro de Moura, Veronica Davalos, Laura Planas-Serra, et al.
Neurology
|
January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Agatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, et al.
Genome Medicine
|
September 7, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, et al.
Brain : a Journal of Neurology
|
August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Edgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
Journal of Inherited Metabolic Disease
|
July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutations
Nadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.
Ebiomedicine
|
March 1, 2021
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
Margherita Baldassarri, Nicola Picchiotti, Francesca Fava, et al.
Page
of 14