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When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A. Bargal R, et al. Among authors: ben neriah z. Mol Genet Metab. 2006 Aug;88(4):359-63. doi: 10.1016/j.ymgme.2006.03.003. Epub 2006 Apr 21. Mol Genet Metab. 2006. PMID: 16630736
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A. Bargal R, et al. Among authors: ben neriah z. Am J Hum Genet. 2009 Jan;84(1):80-4. doi: 10.1016/j.ajhg.2008.12.004. Epub 2008 Dec 24. Am J Hum Genet. 2009. PMID: 19110212 Free PMC article.
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener JE, Toutain A, Stemmer E, Ben-Neriah Z, Flusser H, Beemer FA, Penttinen M, Olender T, Rein AJ, Bach G, Zeigler M. Raas-Rothschild A, et al. Among authors: ben asher e, ben neriah z. J Med Genet. 2004 Apr;41(4):e52. doi: 10.1136/jmg.2003.015222. J Med Genet. 2004. PMID: 15060128 Free PMC article. No abstract available.
Aspartylglucosaminuria among Palestinian Arabs.
Zlotogora J, Ben-Neriah Z, Abu-Libdeh BY, Sury V, Zeigler M. Zlotogora J, et al. Among authors: ben neriah z. J Inherit Metab Dis. 1997 Nov;20(6):799-802. doi: 10.1023/a:1005371802085. J Inherit Metab Dis. 1997. PMID: 9427148
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations.
Molho-Pessach V, Agha Z, Aamar S, Glaser B, Doviner V, Hiller N, Zangen DH, Raas-Rothschild A, Ben-Neriah Z, Shweiki S, Elpeleg O, Zlotogorski A. Molho-Pessach V, et al. Among authors: ben neriah z. J Am Acad Dermatol. 2008 Jul;59(1):79-85. doi: 10.1016/j.jaad.2008.03.021. Epub 2008 Apr 14. J Am Acad Dermatol. 2008. PMID: 18410979
55 results