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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2010 | 1 |
2011 | 1 |
2012 | 1 |
2015 | 1 |
2017 | 1 |
2024 | 0 |
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A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
Hum Genet. 2015 Aug;134(8):869-79. doi: 10.1007/s00439-015-1568-z. Epub 2015 May 26.
Hum Genet. 2015.
PMID: 26008905
Free PMC article.
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.
Hensen EF, Jansen JC, Siemers MD, Oosterwijk JC, Vriends AH, Corssmit EP, Bayley JP, van der Mey AG, Cornelisse CJ, Devilee P.
Hensen EF, et al.
Eur J Hum Genet. 2010 Jan;18(1):62-6. doi: 10.1038/ejhg.2009.112.
Eur J Hum Genet. 2010.
PMID: 19584903
Free PMC article.
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High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.
Hensen EF, van Duinen N, Jansen JC, Corssmit EP, Tops CM, Romijn JA, Vriends AH, van der Mey AG, Cornelisse CJ, Devilee P, Bayley JP.
Hensen EF, et al.
Clin Genet. 2012 Mar;81(3):284-8. doi: 10.1111/j.1399-0004.2011.01653.x. Epub 2011 Mar 15.
Clin Genet. 2012.
PMID: 21348866
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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