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NPJ Genomic Medicine
|
November 8, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
Riccardo Sangermano, Priya Gupta, Cherrell Price, et al.
Brain : a Journal of Neurology
|
March 24, 2020
Cortical interneuron-mediated inhibition delays the onset of amyotrophic lateral sclerosis
C Sahara Khademullah, Afif J Aqrabawi, Kara M Place, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 22, 2025
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa
Lorenzo Bianco, Julien Navarro, Christelle Michiels, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 21, 2014
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing
Mark B Consugar, Daniel Navarro-Gomez, Emily M Place, et al.
Plos Genetics
|
September 29, 2025
Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen
Janine M Wotton, Mark P Krebs, Riccardo Sangermano, et al.
Nature Communications
|
March 20, 2021
New material platform for superconducting transmon qubits with coherence times exceeding 0.3 milliseconds
Alexander P M Place, Lila V H Rodgers, Pranav Mundada, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
|
May 11, 2023
Chemical Profiles of the Oxides on Tantalum in State of the Art Superconducting Circuits
Russell A McLellan, Aveek Dutta, Chenyu Zhou, et al.
NPJ Genomic Medicine
|
June 30, 2021
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Riccardo Sangermano, Iris Deitch, Virginie G Peter, et al.
Investigative Ophthalmology & Visual Science
|
June 29, 2021
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome
Mariana Matioli da Palma, Austin D Igelman, Cristy Ku, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
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Search research articles
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Showing results (91-100 of 105) with videos related to
Sort By:
Page
of 11
NPJ Genomic Medicine
|
November 8, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
Riccardo Sangermano, Priya Gupta, Cherrell Price, et al.
Brain : a Journal of Neurology
|
March 24, 2020
Cortical interneuron-mediated inhibition delays the onset of amyotrophic lateral sclerosis
C Sahara Khademullah, Afif J Aqrabawi, Kara M Place, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 22, 2025
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa
Lorenzo Bianco, Julien Navarro, Christelle Michiels, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 21, 2014
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing
Mark B Consugar, Daniel Navarro-Gomez, Emily M Place, et al.
Plos Genetics
|
September 29, 2025
Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen
Janine M Wotton, Mark P Krebs, Riccardo Sangermano, et al.
Nature Communications
|
March 20, 2021
New material platform for superconducting transmon qubits with coherence times exceeding 0.3 milliseconds
Alexander P M Place, Lila V H Rodgers, Pranav Mundada, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
|
May 11, 2023
Chemical Profiles of the Oxides on Tantalum in State of the Art Superconducting Circuits
Russell A McLellan, Aveek Dutta, Chenyu Zhou, et al.
NPJ Genomic Medicine
|
June 30, 2021
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Riccardo Sangermano, Iris Deitch, Virginie G Peter, et al.
Investigative Ophthalmology & Visual Science
|
June 29, 2021
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome
Mariana Matioli da Palma, Austin D Igelman, Cristy Ku, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Page
of 11