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Items: 1 to 20 of 275

1.

Blood Beta-Amyloid and Tau in Down Syndrome: A Comparison with Alzheimer's Disease.

Lee NC, Yang SY, Chieh JJ, Huang PT, Chang LM, Chiu YN, Huang AC, Chien YH, Hwu WL, Chiu MJ.

Front Aging Neurosci. 2017 Jan 17;8:316. doi: 10.3389/fnagi.2016.00316.

2.

A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review.

Hsueh SJ, Lee NC, Yang SH, Lin HI, Lin CH.

BMC Neurol. 2017 Jan 6;17(1):2. doi: 10.1186/s12883-016-0781-2. Review.

3.

Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease.

Zeng YT, Hwu WL, Torng PC, Lee NC, Shieh JY, Lu L, Chien YH.

Eur J Paediatr Neurol. 2016 Dec 19. pii: S1090-3798(16)30281-1. doi: 10.1016/j.ejpn.2016.12.004. [Epub ahead of print]

PMID:
28039015
4.

Russell-Silver syndrome presenting with ambiguous genitalia.

Chang IF, Chien YH, Tsai WY, Lee NC.

J Formos Med Assoc. 2016 Dec 17. pii: S0929-6646(16)30384-9. doi: 10.1016/j.jfma.2016.11.003. [Epub ahead of print] No abstract available.

5.

Down syndrome in diverse populations.

Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BH, Mok GT, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CA, Addissie YA, Pardo KL, Brough JJ, Lee NC, Girisha KM, Patil SJ, Ng IS, Min BC, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Richieri-Costa A, Muthukumarasamy P, Thong MK, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M.

Am J Med Genet A. 2017 Jan;173(1):42-53. doi: 10.1002/ajmg.a.38043.

PMID:
27991738
6.

Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.

Lee NC, Lee YM, Chen PW, Byrne BJ, Hwu WL.

Hum Mol Genet. 2016 Sep 21. pii: ddw323. doi: 10.1093/hmg/ddw323. [Epub ahead of print]

PMID:
27658936
7.

Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia.

Hsiao CC, Lee NC, Huang PH, Tsai TH.

J Formos Med Assoc. 2016 Nov;115(11):1012-1014. doi: 10.1016/j.jfma.2016.04.010. No abstract available.

8.

Gaseous and Particulate Content of Laser Hair Removal Plume.

Chuang GS, Farinelli W, Christiani DC, Herrick RF, Lee NC, Avram MM.

JAMA Dermatol. 2016 Dec 1;152(12):1320-1326. doi: 10.1001/jamadermatol.2016.2097.

PMID:
27385074
9.

Moving toward a higher efficiency of microcell-mediated chromosome transfer.

Liskovykh M, Lee NC, Larionov V, Kouprina N.

Mol Ther Methods Clin Dev. 2016 Jun 22;3:16043. doi: 10.1038/mtm.2016.43.

10.

3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.

Chien YH, Chen PW, Lee NC, Hsieh WS, Chiu PC, Hwu WL, Tsai FJ, Lin SP, Chu SY, Jong YJ, Chao MC.

Mol Genet Metab. 2016 Aug;118(4):259-63. doi: 10.1016/j.ymgme.2016.05.011.

PMID:
27216367
11.

Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.

Peng SS, Hwu WL, Lee NC, Tsai FJ, Tsai WH, Chien YH.

Orphanet J Rare Dis. 2016 May 17;11(1):63. doi: 10.1186/s13023-016-0446-7.

12.

Development of a novel HAC-based "gain of signal" quantitative assay for measuring chromosome instability (CIN) in cancer cells.

Kim JH, Lee HS, Lee NC, Goncharov NV, Kumeiko V, Masumoto H, Earnshaw WC, Kouprina N, Larionov V.

Oncotarget. 2016 Mar 22;7(12):14841-56. doi: 10.18632/oncotarget.7854.

13.

Integrated care for Down syndrome.

Lee NC, Chien YH, Hwu WL.

Congenit Anom (Kyoto). 2016 May;56(3):104-6. doi: 10.1111/cga.12159. Review.

PMID:
26866291
14.

Effects of Anticancer Drugs on Chromosome Instability and New Clinical Implications for Tumor-Suppressing Therapies.

Lee HS, Lee NC, Kouprina N, Kim JH, Kagansky A, Bates S, Trepel JB, Pommier Y, Sackett D, Larionov V.

Cancer Res. 2016 Feb 15;76(4):902-11. doi: 10.1158/0008-5472.CAN-15-1617.

15.

Does Activity Space Size Influence Physical Activity Levels of Adolescents? - A GPS study of an urban environment.

Lee NC, Voss C, Frazer AD, Hirsch JA, McKay HA, Winters M.

Prev Med Rep. 2016 Jun;3:75-78.

16.

Hypothermia improves disease manifestations in SMA mice via SMN augmentation.

Tsai LK, Chen CL, Tsai YC, Ting CH, Chien YH, Lee NC, Hwu WL.

Hum Mol Genet. 2016 Feb 15;25(4):631-41. doi: 10.1093/hmg/ddv500.

PMID:
26647309
17.

Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography.

Liu YN, Liu TT, Fan YL, Niu DM, Chien YH, Chou YY, Lee NC, Hsiao KJ, Chiu YH.

Clin Chim Acta. 2016 Jan 30;453:13-20. doi: 10.1016/j.cca.2015.11.023.

PMID:
26620954
18.

Social information influences trust behaviour in adolescents.

Lee NC, Jolles J, Krabbendam L.

J Adolesc. 2016 Jan;46:66-75. doi: 10.1016/j.adolescence.2015.10.021.

PMID:
26599529
19.

Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency.

Lee NC, Muramatsu SI, Chien YH, Liu WS, Wang WH, Cheng CH, Hu MK, Chen PW, Tzen KY, Byrne BJ, Hwu WL.

Mol Ther. 2015 Oct;23(10):1572-1581. doi: 10.1038/mt.2015.122.

20.

Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemia.

Li MJ, Yang YL, Lee NC, Jou ST, Lu MY, Chang HH, Lin KH, Peng CT, Lin DT.

J Formos Med Assoc. 2016 Sep;115(9):801-6. doi: 10.1016/j.jfma.2015.08.002.

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