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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
1998 1
1999 1
2000 1
2002 1
2004 1
2006 1
2008 1
2010 1
2011 1
2012 1
2024 0

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PubMed (cited) for id: 609144

11 results

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Page 1
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. Puffenberger EG, et al. PLoS One. 2012;7(1):e28936. doi: 10.1371/journal.pone.0028936. Epub 2012 Jan 17. PLoS One. 2012. PMID: 22279524 Free PMC article.
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
Rajadhyaksha AM, Elemento O, Puffenberger EG, Schierberl KC, Xiang JZ, Putorti ML, Berciano J, Poulin C, Brais B, Michaelides M, Weleber RG, Higgins JJ. Rajadhyaksha AM, et al. Am J Hum Genet. 2010 Nov 12;87(5):643-54. doi: 10.1016/j.ajhg.2010.10.013. Am J Hum Genet. 2010. PMID: 21070897 Free PMC article.
11 results