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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
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.
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group; Valente EM, Gleeson JG.
Brancati F, et al. Among authors: zablocka d.
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.
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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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