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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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2012 | 2 |
2013 | 2 |
2021 | 1 |
2024 | 0 |
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Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
Am J Hum Genet. 2013 Jan 10;92(1):144-9. doi: 10.1016/j.ajhg.2012.11.015. Epub 2012 Dec 27.
Am J Hum Genet. 2013.
PMID: 23273569
Free PMC article.
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias.
Silveira KC, Kanazawa TY, Silveira C, Lacarrubba-Flores MDJ, Carvalho BS, Cavalcanti DP.
Silveira KC, et al.
Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):396-408. doi: 10.1002/ajmg.c.31937. Epub 2021 Sep 16.
Am J Med Genet C Semin Med Genet. 2021.
PMID: 34529350
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Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics.
Below JE, et al.
Am J Hum Genet. 2013 Jan 10;92(1):137-43. doi: 10.1016/j.ajhg.2012.11.011. Epub 2012 Dec 27.
Am J Hum Genet. 2013.
PMID: 23273567
Free PMC article.
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