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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
2019 1
2020 2
2021 2
2022 2
2024 0

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121 results

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Page 1
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group. Strehlow V, et al. Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. Brain. 2019. PMID: 30544257 Free PMC article.
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, Altmüller J, Kaulfuß S, Li Y, Nürnberg P, Burfeind P, Yigit G, Wollnik B. Gönenc II, et al. Among authors: burfeind p. Clin Genet. 2022 May;101(5-6):559-564. doi: 10.1111/cge.14125. Epub 2022 Mar 11. Clin Genet. 2022. PMID: 35218564
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.
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. 2022 Jun;59(6):549-553. doi: 10.1136/jmedgenet-2021-107769. Epub 2021 Jun 25. J Med Genet. 2022. PMID: 34172529 Free PMC article.
121 results