Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

5,246 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis.
Wijaya YOS, Nishio H, Niba ETE, Shiroshita T, Kato M, Bouike Y, Tode C, Ar Rochmah M, Harahap NIF, Nurputra DK, Okamoto K, Saito T, Takeuchi A, Lai PS, Yamaguchi S, Shinohara M. Wijaya YOS, et al. Among authors: yamaguchi s. Genet Test Mol Biomarkers. 2021 Apr;25(4):293-301. doi: 10.1089/gtmb.2020.0312. Genet Test Mol Biomarkers. 2021. PMID: 33877896
[No title available]
[No authors listed] [No authors listed] PMID: 33561069
Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses.
Shimada T, Kelly J, LaMarr WA, van Vlies N, Yasuda E, Mason RW, Mackenzie W, Kubaski F, Giugliani R, Chinen Y, Yamaguchi S, Suzuki Y, Orii KE, Fukao T, Orii T, Tomatsu S. Shimada T, et al. Among authors: yamaguchi s. Mol Genet Metab. 2014 Sep-Oct;113(1-2):92-9. doi: 10.1016/j.ymgme.2014.07.008. Epub 2014 Jul 21. Mol Genet Metab. 2014. PMID: 25092413 Free PMC article.
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: yamaguchi s. Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31. Mol Genet Metab. 2017. PMID: 28801073
5,246 results