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Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.
Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB. Brownstein Z, et al. Among authors: kol n. Genome Biol. 2011 Sep 14;12(9):R89. doi: 10.1186/gb-2011-12-9-r89. Genome Biol. 2011. PMID: 21917145 Free PMC article.
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: kol n. 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.
The dynamic N(1)-methyladenosine methylome in eukaryotic messenger RNA.
Dominissini D, Nachtergaele S, Moshitch-Moshkovitz S, Peer E, Kol N, Ben-Haim MS, Dai Q, Di Segni A, Salmon-Divon M, Clark WC, Zheng G, Pan T, Solomon O, Eyal E, Hershkovitz V, Han D, Doré LC, Amariglio N, Rechavi G, He C. Dominissini D, et al. Among authors: kol n. Nature. 2016 Feb 25;530(7591):441-6. doi: 10.1038/nature16998. Epub 2016 Feb 10. Nature. 2016. PMID: 26863196 Free PMC article.
Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.
Haberman Y, Di Segni A, Loberman-Nachum N, Barel O, Kunik V, Eyal E, Kol N, Hout-Siloni G, Kochavi B, Avivi C, Schvimer M, Rechavi G, Anikster Y, Barshack I, Weiss B. Haberman Y, et al. Among authors: kol n. J Pediatr Gastroenterol Nutr. 2017 May;64(5):770-776. doi: 10.1097/MPG.0000000000001424. J Pediatr Gastroenterol Nutr. 2017. PMID: 27749612 Free PMC article.
46 results