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

Year Number of Results
2002 4
2003 1
2004 2
2005 5
2006 1
2007 5
2008 1
2009 1
2010 1
2011 1
2012 2
2013 1
2015 2
2018 2
2019 1
2022 1
2024 0

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29 results

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Page 1
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Barbier M, Bahlo M, Pennisi A, Jacoupy M, Tankard RM, Ewenczyk C, Davies KC, Lino-Coulon P, Colace C, Rafehi H, Auger N, Ansell BRE, van der Stelt I, Howell KB, Coutelier M, Amor DJ, Mundwiller E, Guillot-Noël L, Storey E, Gardner RJM, Wallis MJ, Brusco A, Corti O, Rötig A, Leventer RJ, Brice A, Delatycki MB, Stevanin G, Lockhart PJ, Durr A. Barbier M, et al. Among authors: gardner rjm. Ann Neurol. 2022 Jul;92(1):122-137. doi: 10.1002/ana.26366. Epub 2022 May 7. Ann Neurol. 2022. PMID: 35411967 Free article.
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
Nguyen NMP, Khawajkie Y, Mechtouf N, Rezaei M, Breguet M, Kurvinen E, Jagadeesh S, Solmaz AE, Aguinaga M, Hemida R, Harma MI, Rittore C, Rahimi K, Arseneau J, Hovanes K, Clisham R, Lenzi T, Scurry B, Addor MC, Bagga R, Nendaz GG, Finci V, Poke G, Grimes L, Gregersen N, York K, Bolze PA, Patel C, Mozdarani H, Puechberty J, Scotchie J, Fardaei M, Harma M, Gardner RJM, Sahoo T, Dudding-Byth T, Srinivasan R, Sauthier P, Slim R. Nguyen NMP, et al. Among authors: gardner rjm. Mod Pathol. 2018 Jul;31(7):1116-1130. doi: 10.1038/s41379-018-0031-9. Epub 2018 Feb 20. Mod Pathol. 2018. PMID: 29463882 Free article.
Spinocerebellar ataxia type 20.
Storey E, Gardner RJ. Storey E, et al. Among authors: gardner rj. Handb Clin Neurol. 2012;103:567-73. doi: 10.1016/B978-0-444-51892-7.00038-3. Handb Clin Neurol. 2012. PMID: 21827916 Review.
Spinocerebellar ataxia type 15.
Storey E, Gardner RJ. Storey E, et al. Among authors: gardner rj. Handb Clin Neurol. 2012;103:561-5. doi: 10.1016/B978-0-444-51892-7.00037-1. Handb Clin Neurol. 2012. PMID: 21827915 Review.
NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage.
Messaed C, Chebaro W, Di Roberto RB, Rittore C, Cheung A, Arseneau J, Schneider A, Chen MF, Bernishke K, Surti U, Hoffner L, Sauthier P, Buckett W, Qian J, Lau NM, Bagga R, Engert JC, Coullin P, Touitou I, Slim R; H M Collaborative Group. Messaed C, et al. J Med Genet. 2011 Aug;48(8):540-8. doi: 10.1136/jmg.2011.089144. Epub 2011 Jun 9. J Med Genet. 2011. PMID: 21659348
Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1).
Coman D, Yaplito-Lee J, La P, Nasioulas S, Bruno D, Slater HR, Stock-Myer SE, Lynch EL, Gardner RJ. Coman D, et al. Among authors: gardner rj. Mol Genet Metab. 2010 Mar;99(3):329. doi: 10.1016/j.ymgme.2009.11.006. Epub 2009 Nov 27. Mol Genet Metab. 2010. PMID: 20036594 No abstract available.
29 results