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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2004 1
2006 1
2008 2
2009 1
2012 2
2013 1
2014 4
2015 2
2016 2
2017 2
2018 1
2023 1
2024 1

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19 results

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Page 1
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
A Case of Severe Neonatal Hyperammonemia.
Peake RWA, Neilan EG. Peake RWA, et al. Among authors: neilan eg. Clin Chem. 2017 Aug;63(8):1420-1422. doi: 10.1373/clinchem.2017.274209. Clin Chem. 2017. PMID: 28751323 No abstract available.
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
Burton BK, Balwani M, Feillet F, Barić I, Burrow TA, Camarena Grande C, Coker M, Consuelo-Sánchez A, Deegan P, Di Rocco M, Enns GM, Erbe R, Ezgu F, Ficicioglu C, Furuya KN, Kane J, Laukaitis C, Mengel E, Neilan EG, Nightingale S, Peters H, Scarpa M, Schwab KO, Smolka V, Valayannopoulos V, Wood M, Goodman Z, Yang Y, Eckert S, Rojas-Caro S, Quinn AG. Burton BK, et al. Among authors: neilan eg. N Engl J Med. 2015 Sep 10;373(11):1010-20. doi: 10.1056/NEJMoa1501365. N Engl J Med. 2015. PMID: 26352813 Free article. Clinical Trial.
Copy number variation plays an important role in clinical epilepsy.
Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. Olson H, et al. Among authors: neilan e. Ann Neurol. 2014 Jun;75(6):943-58. doi: 10.1002/ana.24178. Epub 2014 Jun 13. Ann Neurol. 2014. PMID: 24811917 Free PMC article.
Newborn Screening for Glutaric Aciduria-II: The New England Experience.
Sahai I, Garganta CL, Bailey J, James P, Levy HL, Martin M, Neilan E, Phornphutkul C, Sweetser DA, Zytkovicz TH, Eaton RB. Sahai I, et al. Among authors: neilan e. JIMD Rep. 2014;13:1-14. doi: 10.1007/8904_2013_262. Epub 2013 Nov 5. JIMD Rep. 2014. PMID: 24190796 Free PMC article.
Increased oxidative phosphorylation in response to acute and chronic DNA damage.
Brace LE, Vose SC, Stanya K, Gathungu RM, Marur VR, Longchamp A, Treviño-Villarreal H, Mejia P, Vargas D, Inouye K, Bronson RT, Lee CH, Neilan E, Kristal BS, Mitchell JR. Brace LE, et al. Among authors: neilan e. NPJ Aging Mech Dis. 2016 Oct 13;2:16022. doi: 10.1038/npjamd.2016.22. eCollection 2016. NPJ Aging Mech Dis. 2016. PMID: 28721274 Free PMC article.
19 results