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

Results by year

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

Year Number of Results
1993 1
1995 2
1997 1
1999 1
2005 2
2006 2
2007 2
2008 5
2009 2
2010 2
2011 1
2012 5
2013 8
2014 8
2015 10
2016 9
2017 12
2018 8
2019 3
2020 3
2021 2
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

78 results

Results by year

Filters applied: . Clear all
Page 1
VLDLR Cerebellar Hypoplasia.
Boycott KM, MacDonald SK, Parboosingh JS. Boycott KM, et al. Among authors: parboosingh js. 2008 Aug 26 [updated 2020 Feb 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Aug 26 [updated 2020 Feb 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301729 Free Books & Documents. Review.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Among authors: parboosingh js. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network; Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Shashi V, et al. Among authors: parboosingh js. Genet Med. 2023 Sep;25(9):100897. doi: 10.1016/j.gim.2023.100897. Epub 2023 May 13. Genet Med. 2023. PMID: 37191094 Free PMC article.
Expansion of phenotype and genotypic data in CRB2-related syndrome.
Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, Pappas J, Altschwager P, DeWard S, Fulton A, Gray KJ, Krall M, Mehta L, Rodan LH, Saller DN Jr, Steele D, Stein D, Yatsenko SA, Bernier FP, Slavotinek AM. Lamont RE, et al. Among authors: parboosingh js. Eur J Hum Genet. 2016 Oct;24(10):1436-44. doi: 10.1038/ejhg.2016.24. Epub 2016 Mar 23. Eur J Hum Genet. 2016. PMID: 27004616 Free PMC article. Review.
Clinical genetics and the Hutterite population: a review of Mendelian disorders.
Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. Boycott KM, et al. Among authors: parboosingh js. Am J Med Genet A. 2008 Apr 15;146A(8):1088-98. doi: 10.1002/ajmg.a.32245. Am J Med Genet A. 2008. PMID: 18348266 Review.
"Devolution" of bipedality.
Herz J, Boycott KM, Parboosingh JS. Herz J, et al. Among authors: parboosingh js. Proc Natl Acad Sci U S A. 2008 May 27;105(21):E25. doi: 10.1073/pnas.0802584105. Epub 2008 May 16. Proc Natl Acad Sci U S A. 2008. PMID: 18487453 Free PMC article. No abstract available.
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium. Au PYB, et al. Among authors: parboosingh js. Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14. Eur J Hum Genet. 2018. PMID: 29904177 Free PMC article. Review.
Cover Image, Volume 173A, Number 10, October 2017.
Bashir RA, Dixit A, Goedhart C, Parboosingh JS, Innes AM; Care for Rare Canada Consortium; Ferreira P, Hasan SU, Au PB. Bashir RA, et al. Among authors: parboosingh js. Am J Med Genet A. 2017 Oct;173(10):i. doi: 10.1002/ajmg.a.38481. Am J Med Genet A. 2017. PMID: 28921853
78 results