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

Year Number of Results
1989 1
1991 3
1992 1
1993 3
1994 2
1995 3
1996 2
1997 3
1998 4
1999 5
2000 5
2001 3
2002 8
2003 12
2004 5
2005 4
2006 4
2007 6
2008 3
2009 7
2010 3
2011 4
2012 8
2013 6
2014 4
2015 5
2016 3
2017 2
2018 2
2020 2
2021 2
2022 0
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119 results
Results by year
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Page 1
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Yigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altmüller J, Nürnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K. Yigit G, et al. Among authors: burfeind p. J Med Genet. 2021 Jun 25:jmedgenet-2021-107769. doi: 10.1136/jmedgenet-2021-107769. Online ahead of print. J Med Genet. 2021. PMID: 34172529 Free article.
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Ganapathi M, Argyriou L, Martínez-Azorín F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorlí-García M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B. Ganapathi M, et al. Among authors: burfeind p. Hum Genet. 2020 Nov;139(11):1443-1454. doi: 10.1007/s00439-020-02188-6. Epub 2020 Jun 8. Hum Genet. 2020. PMID: 32514796 Free PMC article.
Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay.
von Beust G, Sauter SM, Liehr T, Burfeind P, Bartels I, Starke H, von Eggeling F, Zoll B. von Beust G, et al. Among authors: burfeind p. Am J Med Genet A. 2005 Aug 15;137(1):59-64. doi: 10.1002/ajmg.a.30835. Am J Med Genet A. 2005. PMID: 16007665 Review.
119 results