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

Year Number of Results
1965 1
1966 1
1968 1
1970 1
1973 2
1978 1
1981 1
1983 1
1984 1
1986 1
1987 1
1988 1
1989 2
1990 2
1991 1
1993 1
1994 1
1996 1
1997 3
1999 2
2003 1
2005 1
2009 1
2010 2
2013 1
2014 4
2015 8
2018 1
2019 1
2020 3
2021 3
2022 0
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48 results
Results by year
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Page 1
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Falb RJ, Müller AJ, Klein W, Grimmel M, Grasshoff U, Spranger S, Stöbe P, Gauck D, Kuechler A, Dikow N, Schwaibold EMC, Schmidt C, Averdunk L, Buchert R, Heinrich T, Prodan N, Park J, Kehrer M, Sturm M, Kelemen O, Hartmann S, Horn D, Emmerich D, Hirt N, Neumann A, Kristiansen G, Gembruch U, Haen S, Siebert R, Hentze S, Hoopmann M, Ossowski S, Waldmüller S, Beck-Wödl S, Gläser D, Tekesin I, Distelmaier F, Riess O, Kagan KO, Dufke A, Haack TB. Falb RJ, et al. Among authors: emmerich d. J Med Genet. 2021 Nov 5:jmedgenet-2021-108064. doi: 10.1136/jmedgenet-2021-108064. Online ahead of print. J Med Genet. 2021. PMID: 34740919 Free article.
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.
Egerer J, Emmerich D, Fischer-Zirnsak B, Chan WL, Meierhofer D, Tuysuz B, Marschner K, Sauer S, Barr FA, Mundlos S, Kornak U. Egerer J, et al. Among authors: emmerich d. J Invest Dermatol. 2015 Oct;135(10):2368-2376. doi: 10.1038/jid.2015.192. Epub 2015 May 22. J Invest Dermatol. 2015. PMID: 26000619 Free article.
48 results