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Year | Number of Results |
---|---|
2002 | 1 |
2013 | 1 |
2014 | 1 |
2016 | 3 |
2024 | 0 |
PubMed (cited) for id: 608862
6 results
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Page 1
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Am J Hum Genet. 2016 Oct 6;99(4):894-902. doi: 10.1016/j.ajhg.2016.07.018. Epub 2016 Sep 8.
Am J Hum Genet. 2016.
PMID: 27616477
Free PMC article.
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R.
Pronicka E, et al.
J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9.
J Transl Med. 2016.
PMID: 27290639
Free PMC article.
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Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.
Spiegel R, Shaag A, Shalev S, Elpeleg O.
Spiegel R, et al.
Neurogenetics. 2016 Jul;17(3):187-90. doi: 10.1007/s10048-016-0483-3. Epub 2016 Apr 28.
Neurogenetics. 2016.
PMID: 27122014
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Occurrence and subcellular distribution of the NADPHX repair system in mammals.
Marbaix AY, Tyteca D, Niehaus TD, Hanson AD, Linster CL, Van Schaftingen E.
Marbaix AY, et al.
Biochem J. 2014 May 15;460(1):49-58. doi: 10.1042/BJ20131482.
Biochem J. 2014.
PMID: 24611804
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Control of angiogenesis by AIBP-mediated cholesterol efflux.
Fang L, Choi SH, Baek JS, Liu C, Almazan F, Ulrich F, Wiesner P, Taleb A, Deer E, Pattison J, Torres-Vázquez J, Li AC, Miller YI.
Fang L, et al.
Nature. 2013 Jun 6;498(7452):118-22. doi: 10.1038/nature12166. Epub 2013 May 29.
Nature. 2013.
PMID: 23719382
Free PMC article.
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Cloning and characterization of a novel apolipoprotein A-I binding protein, AI-BP, secreted by cells of the kidney proximal tubules in response to HDL or ApoA-I.
Ritter M, Buechler C, Boettcher A, Barlage S, Schmitz-Madry A, Orsó E, Bared SM, Schmiedeknecht G, Baehr CH, Fricker G, Schmitz G.
Ritter M, et al.
Genomics. 2002 May;79(5):693-702. doi: 10.1006/geno.2002.6761.
Genomics. 2002.
PMID: 11991719
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