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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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1996 | 1 |
2000 | 1 |
2010 | 1 |
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2019 | 1 |
2020 | 1 |
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PubMed for id: 342798
6 results
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Page 1
Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.
Am J Hum Genet. 2000 Apr;66(4):1221-8. doi: 10.1086/302867. Epub 2000 Mar 15.
Am J Hum Genet. 2000.
PMID: 10739753
Free PMC article.
COFS syndrome with familial 1;16 translocation.
Temtamy SA, Meguid NA, Mahmoud A, Afifi HH, Gerzawy A, Zaki MS.
Temtamy SA, et al.
Clin Genet. 1996 Oct;50(4):240-3. doi: 10.1111/j.1399-0004.1996.tb02635.x.
Clin Genet. 1996.
PMID: 9001808
Item in Clipboard
Heterogeneity and overlaps in nucleotide excision repair disorders.
Ferri D, Orioli D, Botta E.
Ferri D, et al.
Clin Genet. 2020 Jan;97(1):12-24. doi: 10.1111/cge.13545. Epub 2019 Apr 22.
Clin Genet. 2020.
PMID: 30919937
Review.
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The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex.
Faridounnia M, Wienk H, Kovačič L, Folkers GE, Jaspers NG, Kaptein R, Hoeijmakers JH, Boelens R.
Faridounnia M, et al.
J Biol Chem. 2015 Aug 14;290(33):20541-55. doi: 10.1074/jbc.M114.635169. Epub 2015 Jun 17.
J Biol Chem. 2015.
PMID: 26085086
Free PMC article.
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Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency.
Barnhoorn S, Uittenboogaard LM, Jaarsma D, Vermeij WP, Tresini M, Weymaere M, Menoni H, Brandt RM, de Waard MC, Botter SM, Sarker AH, Jaspers NG, van der Horst GT, Cooper PK, Hoeijmakers JH, van der Pluijm I.
Barnhoorn S, et al.
PLoS Genet. 2014 Oct 9;10(10):e1004686. doi: 10.1371/journal.pgen.1004686. eCollection 2014 Oct.
PLoS Genet. 2014.
PMID: 25299392
Free PMC article.
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Cerebro-oculo-facio-skeletal syndrome.
Suzumura H, Arisaka O.
Suzumura H, et al.
Adv Exp Med Biol. 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19.
Adv Exp Med Biol. 2010.
PMID: 20687508
Review.
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