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Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.
Stephen J, Vilboux T, Haberman Y, Pri-Chen H, Pode-Shakked B, Mazaheri S, Marek-Yagel D, Barel O, Di Segni A, Eyal E, Hout-Siloni G, Lahad A, Shalem T, Rechavi G, Malicdan MC, Weiss B, Gahl WA, Anikster Y. Stephen J, et al. Among authors: rechavi g. Eur J Hum Genet. 2016 Aug;24(9):1268-73. doi: 10.1038/ejhg.2016.5. Epub 2016 Feb 17. Eur J Hum Genet. 2016. PMID: 26883093 Free PMC article.
Mutagen-specific mutation signature determines global microRNA binding.
Greenberg E, Rechavi G, Amariglio N, Solomon O, Schachter J, Markel G, Eyal E. Greenberg E, et al. Among authors: rechavi g. PLoS One. 2011;6(11):e27400. doi: 10.1371/journal.pone.0027400. Epub 2011 Nov 9. PLoS One. 2011. PMID: 22096567 Free PMC article.
Severe eosinophilia in children: a diagnostic dilemma.
Amshalom A, Lev A, Trakhtenbrot L, Golan H, Weiss B, Amariglio N, Rechavi G, Somech R. Amshalom A, et al. Among authors: rechavi g. J Pediatr Hematol Oncol. 2013 May;35(4):303-6. doi: 10.1097/MPH.0b013e318290bf0b. J Pediatr Hematol Oncol. 2013. PMID: 23612381
A congenital neutrophil defect syndrome associated with mutations in VPS45.
Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R. Vilboux T, et al. Among authors: rechavi g. N Engl J Med. 2013 Jul 4;369(1):54-65. doi: 10.1056/NEJMoa1301296. Epub 2013 Jun 5. N Engl J Med. 2013. PMID: 23738510 Free PMC article.
500 results