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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2009
Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of HealthLouise S Merkens, Christopher Wassif, Kristy Healy, et al.
Journal of Inherited Metabolic Disease|February 7, 2021
Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measuresMyriam Abdennadher, Sara Inati, Ariane Soldatos, et al.
Development (Cambridge, England)|August 1, 1997
Lhx2, a LIM homeobox gene, is required for eye, forebrain, and definitive erythrocyte developmentF D Porter, J Drago, Y Xu, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 14, 2017
FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblastsJason Newton, Nitai C Hait, Michael Maceyka, et al.
Journal of Lipid Research|July 24, 2024
Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1Sonali Mishra, Pamela Kell, David Scherrer, et al.
BMC Biology|October 1, 2021
A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1Anika V Prabhu, Insung Kang, Raffaella De Pace, et al.
AIDS (London, England)|January 6, 1999
Twice weekly tuberculosis preventive therapy in HIV infection in ZambiaA Mwinga, M Hosp, P Godfrey-Faussett, et al.
International Journal of Molecular Sciences|July 27, 2024
Effects of SRI-32743, a Novel Quinazoline Structure-Based Compound, on HIV-1 Tat and Cocaine Interaction with Norepinephrine TransporterAna Catya Jiménez-Torres, Katherine D Porter, Jamison A Hastie, et al.
Development (Cambridge, England)|March 24, 2009
LIM homeobox transcription factors integrate signaling events that control three-dimensional limb patterning and growthItai Tzchori, Timothy F Day, Peter J Carolan, et al.
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