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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 May 18.
Am J Hum Genet. 2007.
PMID: 17564967
Free PMC article.
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. Among authors: zablocka d.
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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[Acute non-inflammatory renal failure following rifampin administration].
Zablocka D.
Zablocka D.
Pol Tyg Lek. 1973 Oct 15;28(42):1644-5.
Pol Tyg Lek. 1973.
PMID: 4761453
Polish.
No abstract available.
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