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.


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

My NCBI Filters
Results by year

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

Year Number of Results
2002 4
2003 5
2004 3
2005 4
2006 5
2007 3
2008 4
2009 2
2010 9
2011 5
2012 10
2013 8
2014 12
2015 11
2016 13
2017 12
2018 8
2019 13
2020 20
2021 16
2022 12
2023 6
Text availability
Article attribute
Article type
Publication date

Search Results

163 results
Results by year
Filters applied: . Clear all
Page 1
CLN3 is required for the clearance of glycerophosphodiesters from lysosomes.
Laqtom NN, Dong W, Medoh UN, Cangelosi AL, Dharamdasani V, Chan SH, Kunchok T, Lewis CA, Heinze I, Tang R, Grimm C, Dang Do AN, Porter FD, Ori A, Sabatini DM, Abu-Remaileh M. Laqtom NN, et al. Among authors: porter fd. Nature. 2022 Sep;609(7929):1005-1011. doi: 10.1038/s41586-022-05221-y. Epub 2022 Sep 21. Nature. 2022. PMID: 36131016
Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Bianconi S, Livinski A, Fu YP, Remaley AT, Porter FD. Ballout RA, et al. Among authors: porter fd. Cochrane Database Syst Rev. 2020;2020(1):CD013521. doi: 10.1002/14651858.cd013521. Cochrane Database Syst Rev. 2020. PMID: 32132878 Free PMC article. Updated.
Auditory phenotype of Smith-Lemli-Opitz syndrome.
Zalewski CK, Sydlowski SA, King KA, Bianconi S, Dang Do A, Porter FD, Brewer CC. Zalewski CK, et al. Among authors: porter fd. Am J Med Genet A. 2021 Apr;185(4):1131-1141. doi: 10.1002/ajmg.a.62087. Epub 2021 Feb 2. Am J Med Genet A. 2021. PMID: 33529473 Free PMC article.
Oxidative phosphorylation in creatine transporter deficiency.
Li S, Bianconi S, van der Veen JW, Dang Do A, Stolinski J, Cecil KM, Hannah-Shmouni F, Porter FD, Shen J. Li S, et al. Among authors: porter fd. NMR Biomed. 2021 Jan;34(1):e4419. doi: 10.1002/nbm.4419. Epub 2020 Sep 29. NMR Biomed. 2021. PMID: 32990357 Free PMC article.
Early Indicators of Creatine Transporter Deficiency.
Miller JS, Thomas RP, Bennett A, Bianconi S, Bruchey A, Davis RJ, Ficicioglu C, Guthrie W, Porter FD, Thurm A. Miller JS, et al. Among authors: porter fd. J Pediatr. 2019 Mar;206:283-285. doi: 10.1016/j.jpeds.2018.11.008. Epub 2018 Dec 20. J Pediatr. 2019. PMID: 30579583 Free PMC article.
Vitamin D levels in Smith-Lemli-Opitz syndrome.
Movassaghi M, Bianconi S, Feinn R, Wassif CA, Porter FD. Movassaghi M, et al. Among authors: porter fd. Am J Med Genet A. 2017 Oct;173(10):2577-2583. doi: 10.1002/ajmg.a.38361. Epub 2017 Aug 10. Am J Med Genet A. 2017. PMID: 28796426 Free PMC article.
Use of the Vineland-3, a measure of adaptive functioning, in CLN3.
Dang Do AN, Thurm AE, Farmer CA, Soldatos AG, Chlebowski CE, O'Reilly JK, Porter FD. Dang Do AN, et al. Among authors: porter fd. Am J Med Genet A. 2022 Apr;188(4):1056-1064. doi: 10.1002/ajmg.a.62607. Epub 2021 Dec 16. Am J Med Genet A. 2022. PMID: 34913584
Phenotypic expression of swallowing function in Niemann-Pick disease type C1.
Solomon BI, Muñoz AM, Sinaii N, Farhat NM, Smith AC, Bianconi S, Dang Do A, Backman MC, Machielse L, Porter FD. Solomon BI, et al. Among authors: porter fd. Orphanet J Rare Dis. 2022 Sep 5;17(1):342. doi: 10.1186/s13023-022-02472-w. Orphanet J Rare Dis. 2022. PMID: 36064725 Free PMC article.
163 results