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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 |
2016 | 1 |
2024 | 0 |
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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
PLoS Genet. 2010 Jun 17;6(6):e1000991. doi: 10.1371/journal.pgen.1000991.
PLoS Genet. 2010.
PMID: 20577567
Free PMC article.
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML.
Bowen ME, et al.
PLoS Genet. 2011 Apr;7(4):e1002050. doi: 10.1371/journal.pgen.1002050. Epub 2011 Apr 14.
PLoS Genet. 2011.
PMID: 21533187
Free PMC article.
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Exostoses, enchondromatosis and metachondromatosis; diagnosis and management.
McFarlane J, Knight T, Sinha A, Cole T, Kiely N, Freeman R.
McFarlane J, et al.
Acta Orthop Belg. 2016 Mar;82(1):102-5.
Acta Orthop Belg. 2016.
PMID: 26984661
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