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171 results
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Fabry disease: Review and experience during newborn screening.
Hsu TR, Niu DM. Hsu TR, et al. Among authors: niu dm. Trends Cardiovasc Med. 2018 May;28(4):274-281. doi: 10.1016/j.tcm.2017.10.001. Epub 2017 Oct 20. Trends Cardiovasc Med. 2018. PMID: 29100912 Review.
A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect.
Niu DM, Hwang B, Hwang HW, Wang NH, Wu JY, Lee PC, Chien JC, Shieh RC, Chen YT. Niu DM, et al. J Med Genet. 2006 Oct;43(10):817-21. doi: 10.1136/jmg.2006.042192. Epub 2006 May 17. J Med Genet. 2006. PMID: 16707561 Free PMC article.
Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening.
Cheng KH, Hung MC, Chen SJ, Kao CH, Niu DM. Cheng KH, et al. Among authors: niu dm. J Chin Med Assoc. 2007 Dec;70(12):562-4. doi: 10.1016/S1726-4901(08)70062-5. J Chin Med Assoc. 2007. PMID: 18194900
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.
Niu DM, Hsu JH, Chong KW, Huang CH, Lu YH, Kao CH, Yu HC, Lo MY, Jap TS. Niu DM, et al. J Clin Endocrinol Metab. 2009 Dec;94(12):5045-52. doi: 10.1210/jc.2009-0646. Epub 2009 Oct 16. J Clin Endocrinol Metab. 2009. PMID: 19837936
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
Lin HY, Chong KW, Hsu JH, Yu HC, Shih CC, Huang CH, Lin SJ, Chen CH, Chiang CC, Ho HJ, Lee PC, Kao CH, Cheng KH, Hsueh C, Niu DM. Lin HY, et al. Among authors: niu dm. Circ Cardiovasc Genet. 2009 Oct;2(5):450-6. doi: 10.1161/CIRCGENETICS.109.862920. Epub 2009 Jul 24. Circ Cardiovasc Genet. 2009. PMID: 20031620
Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
Lin HY, Niu DM, Chong KW, Hsu JH, Yu HC, Huang CH. Lin HY, et al. Among authors: niu dm. Hum Genet. 2010 Jan;127(1):122-3. Hum Genet. 2010. PMID: 20108401 No abstract available.
Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
Niu DM, Lin HY, Chong KW, Hsu JH, Yu HC, Huang CH. Niu DM, et al. Hum Genet. 2010 Jan;127(1):122. Hum Genet. 2010. PMID: 20108436 No abstract available.
Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
Lin HY, Chong KW, Hsu JH, Yu HC, Huang CH, Niu DM. Lin HY, et al. Among authors: niu dm. Hum Genet. 2010 Jan;127(1):124. Hum Genet. 2010. PMID: 20108438 No abstract available.
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.
Niu DM, Chong KW, Hsu JH, Wu TJ, Yu HC, Huang CH, Lo MY, Kwok CF, Kratz LE, Ho LT. Niu DM, et al. J Inherit Metab Dis. 2010 Aug;33(4):437-43. doi: 10.1007/s10545-010-9126-2. Epub 2010 Jun 3. J Inherit Metab Dis. 2010. PMID: 20521169
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
Niu DM, Chien YH, Chiang CC, Ho HC, Hwu WL, Kao SM, Chiang SH, Kao CH, Liu TT, Chiang H, Hsiao KJ. Niu DM, et al. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S295-305. doi: 10.1007/s10545-010-9129-z. Epub 2010 Jun 22. J Inherit Metab Dis. 2010. PMID: 20567911
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