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

Year Number of Results
1993 1
2002 3
2003 2
2004 3
2005 5
2007 4
2008 6
2009 5
2010 8
2011 7
2012 6
2013 20
2014 13
2015 11
2016 10
2017 16
2018 10
2019 11
2020 12
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Search Results

134 results
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Page 1
De novo mutations in epileptic encephalopathies.
Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. Epi4K Consortium, et al. Among authors: singh r. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11. Nature. 2013. PMID: 23934111 Free PMC article.
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR. Chinsky JM, et al. Among authors: singh r. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.101. Epub 2017 Aug 3. Genet Med. 2017. PMID: 28771246 Free PMC article. Review.
Cannabidiol improves frequency and severity of seizures and reduces adverse events in an open-label add-on prospective study.
Szaflarski JP, Bebin EM, Cutter G, DeWolfe J, Dure LS, Gaston TE, Kankirawatana P, Liu Y, Singh R, Standaert DG, Thomas AE, Ver Hoef LW; UAB CBD Program. Szaflarski JP, et al. Among authors: singh r. Epilepsy Behav. 2018 Oct;87:131-136. doi: 10.1016/j.yebeh.2018.07.020. Epub 2018 Aug 9. Epilepsy Behav. 2018. PMID: 30100226 Free article. Clinical Trial.
Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
Frazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, Splett PL, Stembridge A, Singh RH. Frazier DM, et al. Among authors: singh rh. Mol Genet Metab. 2014 Jul;112(3):210-7. doi: 10.1016/j.ymgme.2014.05.006. Epub 2014 May 17. Mol Genet Metab. 2014. PMID: 24881969 Free article.
Duarte Variant Galactosemia.
Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer JD. Fridovich-Keil JL, et al. Among authors: singh rh. 2014 Dec 4 [updated 2020 Jun 25]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 25473725 Free Books & Documents. Review.
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium. EuroEPINOMICS-RES Consortium, et al. Am J Hum Genet. 2014 Oct 2;95(4):360-70. doi: 10.1016/j.ajhg.2014.08.013. Epub 2014 Sep 25. Am J Hum Genet. 2014. PMID: 25262651 Free PMC article.
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.
Singh RH, Cunningham AC, Mofidi S, Douglas TD, Frazier DM, Hook DG, Jeffers L, McCune H, Moseley KD, Ogata B, Pendyal S, Skrabal J, Splett PL, Stembridge A, Wessel A, Rohr F. Singh RH, et al. Mol Genet Metab. 2016 Jun;118(2):72-83. doi: 10.1016/j.ymgme.2016.04.008. Epub 2016 Apr 17. Mol Genet Metab. 2016. PMID: 27211276 Review.
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Camp KM, et al. Among authors: singh rh. Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6. Mol Genet Metab. 2014. PMID: 24667081
Regulatory T Cells in Respiratory Health and Diseases.
Singh R, Alape D, de Lima A, Ascanio J, Majid A, Gangadharan SP. Singh R, et al. Pulm Med. 2019 Nov 20;2019:1907807. doi: 10.1155/2019/1907807. eCollection 2019. Pulm Med. 2019. PMID: 31827925 Free PMC article. Review.
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
Epi4K consortium; Epilepsy Phenome/Genome Project. Epi4K consortium, et al. Lancet Neurol. 2017 Feb;16(2):135-143. doi: 10.1016/S1474-4422(16)30359-3. Lancet Neurol. 2017. PMID: 28102150
134 results
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