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Page 1
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Neuser S, et al. Among authors: haberman y. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33847017
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: haberman y. 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.
Individualized Dynamics in the Gut Microbiota Precede Crohn's Disease Flares.
Braun T, Di Segni A, BenShoshan M, Neuman S, Levhar N, Bubis M, Picard O, Sosnovski K, Efroni G, Farage Barhom S, Glick Saar E, Lahad A, Weiss B, Yablecovitch D, Lahat A, Eliakim R, Kopylov U, Ben-Horin S, Haberman Y. Braun T, et al. Among authors: haberman y. Am J Gastroenterol. 2019 Jul;114(7):1142-1151. doi: 10.14309/ajg.0000000000000136. Am J Gastroenterol. 2019. PMID: 30741738
Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression.
Mo A, Nagpal S, Gettler K, Haritunians T, Giri M, Haberman Y, Karns R, Prince J, Arafat D, Hsu NY, Chuang LS, Argmann C, Kasarskis A, Suarez-Farinas M, Gotman N, Mengesha E, Venkateswaran S, Rufo PA, Baker SS, Sauer CG, Markowitz J, Pfefferkorn MD, Rosh JR, Boyle BM, Mack DR, Baldassano RN, Shah S, LeLeiko NS, Heyman MB, Griffiths AM, Patel AS, Noe JD, Davis Thomas S, Aronow BJ, Walters TD, McGovern DPB, Hyams JS, Kugathasan S, Cho JH, Denson LA, Gibson G. Mo A, et al. Among authors: haberman y. Am J Hum Genet. 2021 Sep 2;108(9):1765-1779. doi: 10.1016/j.ajhg.2021.07.013. Epub 2021 Aug 26. Am J Hum Genet. 2021. PMID: 34450030 Free PMC article.
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.
Dionisi-Vici C, Shteyer E, Niceta M, Rizzo C, Pode-Shakked B, Chillemi G, Bruselles A, Semeraro M, Barel O, Eyal E, Kol N, Haberman Y, Lahad A, Diomedi-Camassei F, Marek-Yagel D, Rechavi G, Tartaglia M, Anikster Y. Dionisi-Vici C, et al. Among authors: haberman y. J Inherit Metab Dis. 2016 Sep;39(5):689-695. doi: 10.1007/s10545-016-9956-7. Epub 2016 Jul 1. J Inherit Metab Dis. 2016. PMID: 27368975
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. 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.
Long ncRNA Landscape in the Ileum of Treatment-Naive Early-Onset Crohn Disease.
Haberman Y, BenShoshan M, Di Segni A, Dexheimer PJ, Braun T, Weiss B, Walters TD, Baldassano RN, Noe JD, Markowitz J, Rosh J, Heyman MB, Griffiths AM, Crandall WV, Mack DR, Baker SS, Kellermayer R, Patel A, Otley A, Steiner SJ, Gulati AS, Guthery SL, LeLeiko N, Moulton D, Kirschner BS, Snapper S, Avivi C, Barshack I, Oliva-Hemker M, Cohen SA, Keljo DJ, Ziring D, Anikster Y, Aronow B, Hyams JS, Kugathasan S, Denson LA. Haberman Y, et al. Inflamm Bowel Dis. 2018 Jan 18;24(2):346-360. doi: 10.1093/ibd/izx013. Inflamm Bowel Dis. 2018. PMID: 29361088 Free PMC article.
78 results