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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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2005 | 1 |
2008 | 1 |
2009 | 1 |
2024 | 0 |
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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9.
Nat Genet. 2009.
PMID: 19668216
Free PMC article.
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F, Dallapiccola B, Bertini E; Italian MTS Study Group.
Castori M, et al.
J Med Genet. 2005 Feb;42(2):e9. doi: 10.1136/jmg.2004.027375.
J Med Genet. 2005.
PMID: 15689444
Free PMC article.
No abstract available.
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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM.
Brancati F, et al.
Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28.
Clin Genet. 2008.
PMID: 18565097
Free PMC article.
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