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

Year Number of Results
1963 1
1973 3
1974 2
1976 2
1977 2
1979 4
1980 2
1981 1
1982 2
1984 1
1985 1
1986 2
1987 2
1988 2
1989 1
1990 1
1991 1
1992 1
1993 7
1995 3
1996 3
1997 3
1998 2
1999 5
2000 2
2002 3
2003 1
2004 1
2005 3
2006 3
2007 5
2008 8
2009 4
2010 3
2011 3
2012 5
2013 12
2014 12
2015 13
2016 10
2017 14
2018 9
2019 5
2020 7
2021 5
2022 4
2023 2
2024 1

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Search Results

168 results

Results by year

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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.
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
Grafodatskaya D, O'Rielly DD, Bedard K, Butcher DT, Howlett CJ, Lytwyn A, McCready E, Parboosingh J, Spriggs EL, Vaags AK, Stockley TL. Grafodatskaya D, et al. Among authors: parboosingh j. J Med Genet. 2022 Aug;59(8):727-736. doi: 10.1136/jmedgenet-2021-108238. Epub 2022 Apr 7. J Med Genet. 2022. PMID: 35393334 Free PMC article. Review.
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.
Lazier J, Hartley T, Brock JA, Caluseriu O, Chitayat D, Laberge AM, Langlois S, Lauzon J, Nelson TN, Parboosingh J, Stavropoulos DJ, Boycott K, Armour CM; Canadian College of Medical Geneticists. Lazier J, et al. Among authors: parboosingh j. J Med Genet. 2022 Oct;59(10):931-937. doi: 10.1136/jmedgenet-2021-107897. Epub 2021 Sep 20. J Med Genet. 2022. PMID: 34544840 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.
"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.
Improving communication skills.
Parboosingh J, Kurtz S, Laidlaw T, Schnabl G. Parboosingh J, et al. CMAJ. 1999 Feb 23;160(4):479-80. CMAJ. 1999. PMID: 10081462 Free PMC article. No abstract available.
168 results