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A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K. Magen D, et al. Among authors: skorecki k. N Engl J Med. 2010 Mar 25;362(12):1102-9. doi: 10.1056/NEJMoa0905647. N Engl J Med. 2010. PMID: 20335586 Free article.
Genetic disorders of renal phosphate transport.
Magen D, Zelikovic I, Skorecki K. Magen D, et al. Among authors: skorecki k. N Engl J Med. 2010 Oct 28;363(18):1774; author reply 1774-5. doi: 10.1056/NEJMc1008407. N Engl J Med. 2010. PMID: 20979485 Free article. No abstract available.
Extreme hyperkalemia in Munchausen-by-proxy syndrome.
Magen D, Skorecki K. Magen D, et al. Among authors: skorecki k. N Engl J Med. 1999 Apr 22;340(16):1293-4. doi: 10.1056/NEJM199904223401619. N Engl J Med. 1999. PMID: 10215505 No abstract available.
Gitelman's syndrome: a pathophysiological and clinical update.
Nakhoul F, Nakhoul N, Dorman E, Berger L, Skorecki K, Magen D. Nakhoul F, et al. Among authors: skorecki k. Endocrine. 2012 Feb;41(1):53-7. doi: 10.1007/s12020-011-9556-0. Epub 2011 Nov 15. Endocrine. 2012. PMID: 22169961 Review.
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H. Magen D, et al. Among authors: skorecki k. Am J Hum Genet. 2008 Jul;83(1):30-42. doi: 10.1016/j.ajhg.2008.05.016. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18571143 Free PMC article.
Telomeres and telomerase in human health and disease.
Tzukerman M, Selig S, Skorecki K. Tzukerman M, et al. Among authors: skorecki k. J Pediatr Endocrinol Metab. 2002 Mar;15(3):229-40. doi: 10.1515/jpem.2002.15.3.229. J Pediatr Endocrinol Metab. 2002. PMID: 11924925 Review.
250 results