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Page 1
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R. Simon AJ, et al. Among authors: soudack m. J Exp Med. 2016 Jul 25;213(8):1429-40. doi: 10.1084/jem.20151618. Epub 2016 Jul 18. J Exp Med. 2016. PMID: 27432940 Free PMC article.
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: soudack m. 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.
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.
Pode-Shakked B, Heimer G, Vilboux T, Marek-Yagel D, Ben-Zeev B, Davids M, Ferreira CR, Philosoph AM, Veber A, Pode-Shakked N, Kenet G, Soudack M, Hoffmann C, Vernitsky H, Safaniev M, Lodzki M, Lahad A, Shouval DS, Levinkopf D, Weiss B, Barg AA, Daka A, Amariglio N, Malicdan MCV, Gahl WA, Anikster Y. Pode-Shakked B, et al. Among authors: soudack m. Mol Genet Metab. 2019 Sep-Oct;128(1-2):151-161. doi: 10.1016/j.ymgme.2019.08.003. Epub 2019 Aug 14. Mol Genet Metab. 2019. PMID: 31445883 Free PMC article.
Increased Renal Echogenicity in Children With Appendicitis.
Tal Tamir H, Ben-Mordechay D, Ben-Shlush A, Raviv-Zilka L, Soudack M. Tal Tamir H, et al. Among authors: soudack m. J Ultrasound Med. 2018 Jun;37(6):1403-1409. doi: 10.1002/jum.14480. Epub 2017 Nov 21. J Ultrasound Med. 2018. PMID: 29159839
Pediatric chest ultrasound: a practical approach.
Cox M, Soudack M, Podberesky DJ, Epelman M. Cox M, et al. Among authors: soudack m. Pediatr Radiol. 2017 Aug;47(9):1058-1068. doi: 10.1007/s00247-017-3896-8. Epub 2017 Aug 4. Pediatr Radiol. 2017. PMID: 28779186 Review.
83 results