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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 409

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2,210 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 SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Jenkinson EM, et al. Among authors: fryer ae. Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Nat Genet. 2016. PMID: 27571260 Free PMC article.
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton-Smith J, Dorkins H, Fryer A, Gener B, Goudie D, Henderson A, Irving M, Joss S, Keeley V, Lahiri N, Lynch SA, Mansour S, McCann E, Morton J, Motton N, Murray A, Riches K, Shears D, Stark Z, Thompson E, Vogt J, Wright M, Cole T, Tatton-Brown K. Foster A, et al. Among authors: fryer a. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):502-508. doi: 10.1002/ajmg.c.31738. Epub 2019 Sep 3. Am J Med Genet C Semin Med Genet. 2019. PMID: 31479583 Review.
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.
RIFM low-exposure fragrance ingredients safety assessment.
Api AM, Belsito D, Biserta S, Botelho D, Bruze M, Burton GA Jr, Buschmann J, Cancellieri MA, Dagli ML, Date M, Dekant W, Deodhar C, Fryer AD, Gadhia S, Jones L, Joshi K, Lapczynski A, Lavelle M, Liebler DC, Na M, O'Brien D, Patel A, Penning TM, Ritacco G, Rodriguez-Ropero F, Romine J, Sadekar N, Salvito D, Schultz TW, Siddiqi F, Sipes IG, Sullivan G, Thakkar Y, Tokura Y, Tsang S. Api AM, et al. Among authors: fryer ad. Food Chem Toxicol. 2021 Mar;149 Suppl 1:111981. doi: 10.1016/j.fct.2021.111981. Epub 2021 Feb 10. Food Chem Toxicol. 2021. PMID: 33577945 Review.
2,210 results