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Results by year

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

Year Number of Results
1956 1
1959 3
1961 2
1962 1
1965 1
1967 1
1969 3
1970 1
1973 3
1974 2
1975 3
1976 2
1977 4
1978 1
1979 6
1980 4
1981 6
1982 2
1983 1
1984 1
1985 1
1987 1
1988 1
1989 2
1990 2
1991 1
1992 3
1993 3
1994 3
1995 5
1996 7
1997 7
1998 4
1999 7
2000 6
2001 3
2002 2
2003 7
2004 10
2005 10
2006 6
2007 10
2008 9
2009 10
2010 8
2011 8
2012 7
2013 8
2014 11
2015 12
2016 11
2017 12
2018 13
2019 18
2020 16
2021 22
2022 16
2023 14
2024 7
2025 11
2026 3

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Search Results

337 results

Results by year

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Page 1
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: gold ja. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
Genetics of craniosynostosis.
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Kimonis V, et al. Among authors: gold ja. Semin Pediatr Neurol. 2007 Sep;14(3):150-61. doi: 10.1016/j.spen.2007.08.008. Semin Pediatr Neurol. 2007. PMID: 17980312 Free article. Review.
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
van Oirsouw ASE, Nedbalova P, Hancarova M, Prchal J, Prchalova D, Vlckova M, Bendova S, Monaghan KG, Dyer LM, Chen Y, Carere DA, Te Bogt EAM, Fisher H, Scheuerle AE, Riley S, Jain M, Mu W, Bodurtha JN, van Eerde AM, Stokman MF, Longo N, Balasubramanian M, Spiller M, Costain G, von der Lippe C, Tveten K, Jortveit M, Holla ØL, Isidor B, Cogné B, Glinton KE, Vuocolo B, Sierra RA, Angle B, Bontempo K, Koop K, Rabin R, Pappas J, Staffenberg DA, Joset P, Miny P, Filges I, Alali A, Vitalone K, Rosenfeld JA, Bi W, Bradbrook S, Perrier R, Ramanathan S, Gold JA, Palomares Bralo M, Ángeles Gómez-Cano M, Olney AH, Nielsen S, Ziegler A, Bonneau D, Prouteau C, Bruel AL, Caille-Benigni C, Lambert L, Yu AC, Robin NH, Goodloe D, Fischer J, Porrmann J, Hennig YD, Abou Jamra R, Herman I, Johnson IR, Hérissant L, Jouret G, van Gassen KLI, van Binsbergen E, van der Zwaag B, Kamermans A, Oegema R, Sedlacek Z, Fenckova M, van Jaarsveld RH. van Oirsouw ASE, et al. Among authors: gold ja. Genet Med. 2025 Nov;27(11):101555. doi: 10.1016/j.gim.2025.101555. Epub 2025 Aug 13. Genet Med. 2025. PMID: 40819229 Free article.
Alligator hands.
Gold JA. Gold JA. Ann Intern Med. 2013 Oct 1;159(7):498-9. doi: 10.7326/0003-4819-159-7-201310010-00013. Ann Intern Med. 2013. PMID: 24081291 No abstract available.
Risky Business: Violence in Healthcare.
Huckenpahler AL, Gold JA. Huckenpahler AL, et al. Among authors: gold ja. Mo Med. 2022 Nov-Dec;119(6):514-518. Mo Med. 2022. PMID: 36588638 Free PMC article. No abstract available.
337 results