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

798 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1.
Deguchi K, Clewing JM, Elizondo LI, Hirano R, Huang C, Choi K, Sloan EA, Lücke T, Marwedel KM, Powell RD Jr, Santa Cruz K, Willaime-Morawek S, Inoue K, Lou S, Northrop JL, Kanemura Y, van der Kooy D, Okano H, Armstrong DL, Boerkoel CF. Deguchi K, et al. J Neuropathol Exp Neurol. 2008 Jun;67(6):565-77. doi: 10.1097/NEN.0b013e3181772777. J Neuropathol Exp Neurol. 2008. PMID: 18520775
Schimke immuno-osseous dysplasia: a cell autonomous disorder?
Elizondo LI, Huang C, Northrop JL, Deguchi K, Clewing JM, Armstrong DL, Boerkoel CF. Elizondo LI, et al. Among authors: deguchi k. Am J Med Genet A. 2006 Feb 15;140(4):340-8. doi: 10.1002/ajmg.a.31089. Am J Med Genet A. 2006. PMID: 16419127
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF. Hirano R, et al. Among authors: deguchi k. EMBO J. 2007 Nov 14;26(22):4732-43. doi: 10.1038/sj.emboj.7601885. Epub 2007 Oct 18. EMBO J. 2007. PMID: 17948061 Free PMC article.
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.
Elizondo LI, Cho KS, Zhang W, Yan J, Huang C, Huang Y, Choi K, Sloan EA, Deguchi K, Lou S, Baradaran-Heravi A, Takashima H, Lücke T, Quiocho FA, Boerkoel CF. Elizondo LI, et al. Among authors: deguchi k. J Med Genet. 2009 Jan;46(1):49-59. doi: 10.1136/jmg.2008.060095. Epub 2008 Sep 19. J Med Genet. 2009. PMID: 18805831
Association of impaired neuronal migration with cognitive deficits in extremely preterm infants.
Kubo KI, Deguchi K, Nagai T, Ito Y, Yoshida K, Endo T, Benner S, Shan W, Kitazawa A, Aramaki M, Ishii K, Shin M, Matsunaga Y, Hayashi K, Kakeyama M, Tohyama C, Tanaka KF, Tanaka K, Takashima S, Nakayama M, Itoh M, Hirata Y, Antalffy B, Armstrong DD, Yamada K, Inoue K, Nakajima K. Kubo KI, et al. Among authors: deguchi k. JCI Insight. 2017 May 18;2(10):e88609. doi: 10.1172/jci.insight.88609. eCollection 2017 May 18. JCI Insight. 2017. PMID: 28515367 Free PMC article.
798 results