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Journal of Inherited Metabolic Disease
|
November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
Curtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.
Nature Genetics
|
April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
Human Mutation
|
January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Gillian I Rice, Sehoon Park, Francesco Gavazzi, et al.
Nature Reviews. Neurology
|
May 19, 2023
Global synergistic actions to improve brain health for human development
Mayowa O Owolabi, Matilde Leonardi, Claudio Bassetti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Hannah Stamberger, Trine B Hammer, Elena Gardella, et al.
American Journal of Human Genetics
|
September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Gillian Rice, Teresa Patrick, Rekha Parmar, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.
Physical Review Letters
|
February 21, 2025
Antiprotons and Elementary Particles over a Solar Cycle: Results from the Alpha Magnetic Spectrometer
M Aguilar, G Ambrosi, H Anderson, et al.
Physical Review Letters
|
February 21, 2025
Solar Modulation of Cosmic Nuclei over a Solar Cycle: Results from the Alpha Magnetic Spectrometer
M Aguilar, B Alpat, G Ambrosi, et al.
Physical Review Letters
|
July 7, 2026
Properties of Heavy Cosmic Nuclei Phosphorus, Chlorine, Argon, Potassium, and Calcium: Results from the Alpha Magnetic Spectrometer
A Aceituno, M Aguilar, B Alpat, et al.
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Search research articles
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Showing results (161-170 of 170) with videos related to
Sort By:
Page
of 17
You have reached the last page of results.
This site can display upto 170 results.
Journal of Inherited Metabolic Disease
|
November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
Curtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.
Nature Genetics
|
April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
Human Mutation
|
January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Gillian I Rice, Sehoon Park, Francesco Gavazzi, et al.
Nature Reviews. Neurology
|
May 19, 2023
Global synergistic actions to improve brain health for human development
Mayowa O Owolabi, Matilde Leonardi, Claudio Bassetti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Hannah Stamberger, Trine B Hammer, Elena Gardella, et al.
American Journal of Human Genetics
|
September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Gillian Rice, Teresa Patrick, Rekha Parmar, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.
Physical Review Letters
|
February 21, 2025
Antiprotons and Elementary Particles over a Solar Cycle: Results from the Alpha Magnetic Spectrometer
M Aguilar, G Ambrosi, H Anderson, et al.
Physical Review Letters
|
February 21, 2025
Solar Modulation of Cosmic Nuclei over a Solar Cycle: Results from the Alpha Magnetic Spectrometer
M Aguilar, B Alpat, G Ambrosi, et al.
Physical Review Letters
|
July 7, 2026
Properties of Heavy Cosmic Nuclei Phosphorus, Chlorine, Argon, Potassium, and Calcium: Results from the Alpha Magnetic Spectrometer
A Aceituno, M Aguilar, B Alpat, et al.
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of 17