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

Year Number of Results
1987 1
1991 2
1993 1
1994 1
1995 2
1996 8
1997 1
1998 2
1999 2
2000 20
2001 8
2002 7
2003 6
2004 11
2005 6
2006 10
2007 13
2008 11
2009 20
2010 18
2011 18
2012 28
2013 25
2014 28
2015 30
2016 30
2017 21
2018 29
2019 38
2020 39
2021 41
2022 36
2023 32
2024 11

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PubMed for id: 152667

500 results

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Page 1
Floating-Harbor syndrome with chorioretinal colobomas.
Alanis S, Blair MP, Kaufman LM, Bhat G, Shapiro MJ. Alanis S, et al. Ophthalmic Genet. 2024 Apr;45(2):207-209. doi: 10.1080/13816810.2023.2255895. Epub 2023 Sep 18. Ophthalmic Genet. 2024. PMID: 37722826
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
500 results