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Nature Genetics
|
September 25, 2012
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Gillian I Rice, Paul R Kasher, Gabriella M A Forte, et al.
Arquivos Brasileiros De Cardiologia
|
September 22, 2021
Position Statement on Diagnosis and Treatment of Cardiac Amyloidosis - 2021
Marcus V Simões, Fabio Fernandes, Fabiana G Marcondes-Braga, et al.
The Lancet. Neurology
|
November 5, 2013
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
Gillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, et al.
Brain : a Journal of Neurology
|
February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Andrea Cortese, Maike F Dohrn, Riccardo Curro, et al.
Brain : a Journal of Neurology
|
September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Annette Lischka, Katja Eggermann, Christopher J Record, et al.
The Journal of Clinical Investigation
|
October 14, 2025
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, et al.
Brain : a Journal of Neurology
|
July 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversity
Lindsay A Wilson, William L Macken, Luke D Perry, et al.
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Search research articles
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Showing results (191-200 of 197) with videos related to
Sort By:
Page
of 20
You have reached the last page of results.
This site can display upto 197 results.
Nature Genetics
|
September 25, 2012
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Gillian I Rice, Paul R Kasher, Gabriella M A Forte, et al.
Arquivos Brasileiros De Cardiologia
|
September 22, 2021
Position Statement on Diagnosis and Treatment of Cardiac Amyloidosis - 2021
Marcus V Simões, Fabio Fernandes, Fabiana G Marcondes-Braga, et al.
The Lancet. Neurology
|
November 5, 2013
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
Gillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, et al.
Brain : a Journal of Neurology
|
February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Andrea Cortese, Maike F Dohrn, Riccardo Curro, et al.
Brain : a Journal of Neurology
|
September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Annette Lischka, Katja Eggermann, Christopher J Record, et al.
The Journal of Clinical Investigation
|
October 14, 2025
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, et al.
Brain : a Journal of Neurology
|
July 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversity
Lindsay A Wilson, William L Macken, Luke D Perry, et al.
Page
of 20