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

Year Number of Results
1967 2
1968 1
1969 1
1970 1
1979 1
1980 2
1983 1
1984 1
1985 2
1987 1
1993 1
1995 2
1996 1
1997 2
1998 3
1999 1
2000 3
2002 5
2003 5
2004 3
2005 2
2006 6
2007 5
2008 6
2009 5
2010 4
2011 3
2012 5
2013 3
2014 4
2015 6
2016 5
2017 7
2018 7
2019 2
2020 4
2021 1
2022 1
2023 4
2024 2

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106 results

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Page 1
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: cox gf. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
CRB1: one gene, many phenotypes.
Ehrenberg M, Pierce EA, Cox GF, Fulton AB. Ehrenberg M, et al. Among authors: cox gf. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):397-405. doi: 10.3109/08820538.2013.825277. Semin Ophthalmol. 2013. PMID: 24138049 Review.
Dystrophies and heart disease.
Cox GF, Kunkel LM. Cox GF, et al. Curr Opin Cardiol. 1997 May;12(3):329-43. Curr Opin Cardiol. 1997. PMID: 9243091 Review.
Redefining the MED13L syndrome.
Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Adegbola A, et al. Among authors: cox gf. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758992 Free PMC article.
Clinical approach to genetic cardiomyopathy in children.
Schwartz ML, Cox GF, Lin AE, Korson MS, Perez-Atayde A, Lacro RV, Lipshultz SE. Schwartz ML, et al. Among authors: cox gf. Circulation. 1996 Oct 15;94(8):2021-38. doi: 10.1161/01.cir.94.8.2021. Circulation. 1996. PMID: 8873681 Review.
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF. Cassiman D, et al. Among authors: cox gf. Mol Genet Metab. 2016 Jul;118(3):206-213. doi: 10.1016/j.ymgme.2016.05.001. Epub 2016 May 11. Mol Genet Metab. 2016. PMID: 27198631 Free article. Review.
Sibling phenotype concordance in classical infantile Pompe disease.
Smith WE, Sullivan-Saarela JA, Li JS, Cox GF, Corzo D, Chen YT, Kishnani PS. Smith WE, et al. Among authors: cox gf. Am J Med Genet A. 2007 Nov 1;143A(21):2493-501. doi: 10.1002/ajmg.a.31936. Am J Med Genet A. 2007. PMID: 17853454 Review.
106 results