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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2015 | 6 |
2016 | 3 |
2024 | 0 |
Search Results
7 results
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Page 1
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2.
Mol Genet Metab. 2015.
PMID: 26385305
Free PMC article.
Whole-Exome Sequencing in Familial Parkinson Disease.
Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, Ling H, Liu Y, Lupski JR, Muzny D, Porter P, Pugh E, White J, Doheny K, Myers RM, Shulman JM, Foroud T.
Farlow JL, et al.
JAMA Neurol. 2016 Jan;73(1):68-75. doi: 10.1001/jamaneurol.2015.3266.
JAMA Neurol. 2016.
PMID: 26595808
Free PMC article.
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Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC.
Posey JE, et al.
Am J Med Genet A. 2015 Jun;167(6):1309-14. doi: 10.1002/ajmg.a.36899. Epub 2015 Apr 2.
Am J Med Genet A. 2015.
PMID: 25846959
Free PMC article.
Item in Clipboard
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.
Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH.
Miller MJ, et al.
J Inherit Metab Dis. 2015 Nov;38(6):1029-39. doi: 10.1007/s10545-015-9843-7. Epub 2015 Apr 15.
J Inherit Metab Dis. 2015.
PMID: 25875217
Free PMC article.
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Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.
Posey JE, Mohrbacher N, Smith JL, Patel A, Potocki L, Breman AM.
Posey JE, et al.
Am J Med Genet A. 2016 Mar;170(3):694-8. doi: 10.1002/ajmg.a.37469. Epub 2015 Nov 14.
Am J Med Genet A. 2016.
PMID: 26566716
Free PMC article.
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Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BH.
Burrage LC, et al.
J Pediatr. 2016 Feb;169:208-13.e2. doi: 10.1016/j.jpeds.2015.10.045. Epub 2015 Nov 18.
J Pediatr. 2016.
PMID: 26602010
Free PMC article.
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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics; Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR.
Gonzaga-Jauregui C, et al.
Cell Rep. 2015 Aug 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023. Epub 2015 Aug 6.
Cell Rep. 2015.
PMID: 26257172
Free PMC article.
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