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Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.
Feinstein M, Markus B, Noyman I, Shalev H, Flusser H, Shelef I, Liani-Leibson K, Shorer Z, Cohen I, Khateeb S, Sivan S, Birk OS. Feinstein M, et al. Among authors: noyman i. Am J Hum Genet. 2010 Dec 10;87(6):820-8. doi: 10.1016/j.ajhg.2010.10.016. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092922 Free PMC article.
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L. Maydan G, et al. Among authors: noyman i. J Med Genet. 2011 Jun;48(6):383-9. doi: 10.1136/jmg.2010.087114. Epub 2011 Apr 14. J Med Genet. 2011. PMID: 21493957
New DSM-5 criteria for ADHD - Does it matter?
Rigler T, Manor I, Kalansky A, Shorer Z, Noyman I, Sadaka Y. Rigler T, et al. Among authors: noyman i. Compr Psychiatry. 2016 Jul;68:56-9. doi: 10.1016/j.comppsych.2016.03.008. Epub 2016 Mar 30. Compr Psychiatry. 2016. PMID: 27234183
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser O, Halperin D, Kadir R, Birk OS. Yogev Y, et al. Among authors: noyman i. Eur J Hum Genet. 2017 Aug;25(8):966-972. doi: 10.1038/ejhg.2017.85. Epub 2017 May 10. Eur J Hum Genet. 2017. PMID: 28488683 Free PMC article.
Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.
Dolgin V, Chabosseau P, Bistritzer J, Noyman I, Staretz-Chacham O, Wormser O, Hadar N, Eskin-Schwartz M, Kanengisser-Pines B, Narkis G, Abramsky R, Shany E, Rutter GA, Marks K, Birk OS. Dolgin V, et al. Among authors: noyman i. JIMD Rep. 2025 Jan 9;66(1):e12465. doi: 10.1002/jmd2.12465. eCollection 2025 Jan. JIMD Rep. 2025. PMID: 39790720 Free PMC article.
29 results