Associated Papers
Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.
Watanabe N et al.
Journal of Leukocyte Biology, 2021
Association of SCN1A gene polymorphisms with infantile spasms and adrenocorticotropic hormone responsiveness.
Zhang Y et al.
European Review for Medical and Pharmacological Sciences, 2014
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A et al.
American Journal of Human Genetics, 2009
Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms.
Liu ZL et al.
Chinese Medical Journal, 2008
Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
Hobson GM et al.
Neurology, 2000
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