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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1993 | 1 |
1995 | 1 |
1996 | 1 |
2000 | 1 |
2005 | 1 |
2016 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 54187
6 results
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Page 1
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23.
Nat Genet. 2016.
PMID: 27213289
Free article.
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V.
Geneviève D, et al.
Eur J Hum Genet. 2005 May;13(5):541-6. doi: 10.1038/sj.ejhg.5201339.
Eur J Hum Genet. 2005.
PMID: 15726110
Free article.
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Cloning and expression of the human N-acetylneuraminic acid phosphate synthase gene with 2-keto-3-deoxy-D-glycero- D-galacto-nononic acid biosynthetic ability.
Lawrence SM, Huddleston KA, Pitts LR, Nguyen N, Lee YC, Vann WF, Coleman TA, Betenbaugh MJ.
Lawrence SM, et al.
J Biol Chem. 2000 Jun 9;275(23):17869-77. doi: 10.1074/jbc.M000217200.
J Biol Chem. 2000.
PMID: 10749855
Free article.
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Sponastrime dysplasia: five new cases and review of nine previously published cases.
Langer LO Jr, Beals RK, LaFranchi S, Scott CI Jr, Sockalosky JJ.
Langer LO Jr, et al.
Am J Med Genet. 1996 May 3;63(1):20-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<20::AID-AJMG7>3.0.CO;2-W.
Am J Med Genet. 1996.
PMID: 8723082
Review.
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Sponastrime dysplasia: report on two siblings with metal retardation.
Camera G, Camera A, Di Rocco M, Gatti R.
Camera G, et al.
Pediatr Radiol. 1993;23(8):611-4. doi: 10.1007/BF02014981.
Pediatr Radiol. 1993.
PMID: 8152878
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Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation.
Verloes A, Misson JP, Dubru JM, Jamblin P, Le Merrer M.
Verloes A, et al.
Clin Dysmorphol. 1995 Jul;4(3):208-15.
Clin Dysmorphol. 1995.
PMID: 7551156
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