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

Year Number of Results
1956 1
1969 2
1970 1
1981 2
1982 1
1983 2
1984 5
1985 2
1986 4
1987 7
1988 3
1989 5
1990 12
1991 9
1992 6
1993 10
1994 15
1995 15
1996 19
1997 18
1998 20
1999 22
2000 25
2001 32
2002 28
2003 20
2004 18
2005 26
2006 14
2007 20
2008 20
2009 20
2010 10
2011 23
2012 17
2013 18
2014 25
2015 51
2016 39
2017 126
2018 172
2019 191
2020 217
2021 272
2022 301
2023 238
2024 423
2025 143

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2,315 results

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Page 1
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study; Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Snijders Blok L, et al. Among authors: fryer a. Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235985 Free PMC article.
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Smith MJ, Isidor B, Beetz C, Williams SG, Bhaskar SS, Richer W, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Fryer A, Rustad CF, Mills SJ, Samii A, du Plessis D, Halliday D, Barbarot S, Bourdeaut F, Newman WG, Evans DG. Smith MJ, et al. Among authors: fryer a. Neurology. 2015 Jan 13;84(2):141-7. doi: 10.1212/WNL.0000000000001129. Epub 2014 Dec 5. Neurology. 2015. PMID: 25480913 Free PMC article.
Basal cell carcinoma.
Lear JT, Harvey I, de Berker D, Strange RC, Fryer AA. Lear JT, et al. Among authors: fryer aa. J R Soc Med. 1998 Nov;91(11):585-8. doi: 10.1177/014107689809101110. J R Soc Med. 1998. PMID: 10325876 Free PMC article. Review. No abstract available.
Tuberous sclerosis.
Fryer AE. Fryer AE. J R Soc Med. 1991 Dec;84(12):699-701. doi: 10.1177/014107689108401202. J R Soc Med. 1991. PMID: 1663552 Free PMC article. No abstract available.
A review of prenatally detected femoral abnormalities.
Armstrong R, McCann E, Fryer A, Bricker L, Platt MJ. Armstrong R, et al. Among authors: fryer a. Clin Dysmorphol. 2009 Jul;18(3):127-130. doi: 10.1097/MCD.0b013e32832443b1. Clin Dysmorphol. 2009. PMID: 19339877 Review.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: fryer a. HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. HGG Adv. 2024. PMID: 38297832 Free PMC article.
Glutathione-S-transferase family of enzymes.
Strange RC, Spiteri MA, Ramachandran S, Fryer AA. Strange RC, et al. Among authors: fryer aa. Mutat Res. 2001 Oct 1;482(1-2):21-6. doi: 10.1016/s0027-5107(01)00206-8. Mutat Res. 2001. PMID: 11535245 Review.
2,315 results