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

My NCBI Filters
Results by year

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

Year Number of Results
1993 2
1999 1
2001 1
2004 1
2005 2
2007 2
2008 1
2009 3
2010 2
2011 1
2012 6
2013 9
2014 7
2015 3
2016 5
2017 5
2018 3
2019 2
2020 2
2021 1
2022 2
2023 1
Text availability
Article attribute
Article type
Publication date

Search Results

45 results
Results by year
Filters applied: . Clear all
Page 1
Floating-Harbor Syndrome.
Nowaczyk MJM, Nikkel SM, White SM. Nowaczyk MJM, et al. Among authors: nikkel sm. 2012 Nov 29 [updated 2022 Oct 20]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2012 Nov 29 [updated 2022 Oct 20]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 23193612 Free Books & Documents. Review.
Hypochondroplasia.
Bober MB, Bellus GA, Nikkel SM, Tiller GE. Bober MB, et al. Among authors: nikkel sm. 1999 Jul 15 [updated 2020 May 7]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 1999 Jul 15 [updated 2020 May 7]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301650 Free Books & Documents. Review.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. Rivière JB, et al. Among authors: nikkel sm. Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331. Nat Genet. 2012. PMID: 22729224 Free PMC article.
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Among authors: nikkel sm. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.
Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome.
Grynspan D, Michaud J, Nikkel SM, Creede E, Staines WA. Grynspan D, et al. Among authors: nikkel sm. Pediatr Dev Pathol. 2013 Jul-Aug;16(4):318-20. doi: 10.2350/12-09-1252-LET.1. Epub 2013 May 20. Pediatr Dev Pathol. 2013. PMID: 23688395 No abstract available.
The defining DNA methylation signature of Floating-Harbor Syndrome.
Hood RL, Schenkel LC, Nikkel SM, Ainsworth PJ, Pare G, Boycott KM, Bulman DE, Sadikovic B. Hood RL, et al. Among authors: nikkel sm. Sci Rep. 2016 Dec 9;6:38803. doi: 10.1038/srep38803. Sci Rep. 2016. PMID: 27934915 Free PMC article.
Microarray results as an indicator of sexual abuse.
Russell V, Nikkel SM, Ward MGK. Russell V, et al. Among authors: nikkel sm. Paediatr Child Health. 2020 Apr;25(3):134-135. doi: 10.1093/pch/pxz034. Epub 2019 Apr 10. Paediatr Child Health. 2020. PMID: 32296272 Free PMC article.
45 results