These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
16. Purification and characterization of human dehydrodolychil diphosphate synthase (DHDDS) overexpressed in E. coli. Giladi M; Edri I; Goldenberg M; Newman H; Strulovich R; Khananshvili D; Haitin Y; Loewenstein A Protein Expr Purif; 2017 Apr; 132():138-142. PubMed ID: 28167250 [TBL] [Abstract][Full Text] [Related]
17. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. Westphal V; Kjaergaard S; Schollen E; Martens K; Grunewald S; Schwartz M; Matthijs G; Freeze HH Hum Mol Genet; 2002 Mar; 11(5):599-604. PubMed ID: 11875054 [TBL] [Abstract][Full Text] [Related]
18. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Züchner S; Dallman J; Wen R; Beecham G; Naj A; Farooq A; Kohli MA; Whitehead PL; Hulme W; Konidari I; Edwards YJ; Cai G; Peter I; Seo D; Buxbaum JD; Haines JL; Blanton S; Young J; Alfonso E; Vance JM; Lam BL; Peričak-Vance MA Am J Hum Genet; 2011 Feb; 88(2):201-6. PubMed ID: 21295283 [TBL] [Abstract][Full Text] [Related]
19. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort. Smirnov VM; Nassisi M; Solis Hernandez C; Méjécase C; El Shamieh S; Condroyer C; Antonio A; Meunier I; Andrieu C; Defoort-Dhellemmes S; Mohand-Said S; Sahel JA; Audo I; Zeitz C JAMA Ophthalmol; 2021 Mar; 139(3):278-291. PubMed ID: 33507216 [TBL] [Abstract][Full Text] [Related]
20. Regional expression of disease-related genes in human and monkey retina. Bernstein SL; Wong P Mol Vis; 1998 Nov; 4():24. PubMed ID: 9815288 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]