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De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
von Wintzingerode L, Ben-Zeev B, Cesario C, Chan KM, Depienne C, Elpeleg O, Iascone M, Kelley WV, Nassogne MC, Niceta M, Pezzani L, Rahner N, Revencu N, Bekheirnia MR, Santiago-Sim T, Tartaglia M, Thompson ML, Trivisano M, Hentschel J, Sticht H, Abou Jamra R, Oppermann H. von Wintzingerode L, et al. Among authors: ben zeev b. Genet Med. 2023 Jul;25(7):100859. doi: 10.1016/j.gim.2023.100859. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37092538 Free article.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Langhammer F, et al. Among authors: ben zeev b. Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8. Genet Med. 2023. PMID: 37165955 Free article.
Rett syndrome.
Gold WA, Percy AK, Neul JL, Cobb SR, Pozzo-Miller L, Issar JK, Ben-Zeev B, Vignoli A, Kaufmann WE. Gold WA, et al. Among authors: ben zeev b. Nat Rev Dis Primers. 2024 Nov 7;10(1):84. doi: 10.1038/s41572-024-00568-0. Nat Rev Dis Primers. 2024. PMID: 39511247 Review.
Development of an International Standard Set of Outcomes and Measurement Methods for Routine Practice for Infants, Children, and Adolescents with Epilepsy: The International Consortium for Health Outcomes Measurement Consensus Recommendations.
Mitchell JW, Sossi F, Miller I, Jaber PB, Das-Gupta Z, Fialho LS, Amos A, Austin JK, Badzik S, Baker G, Ben Zeev B, Bolton J, Chaplin JE, Cross JH, Chan D, Gericke CA, Husain AM, Lally L, Mbugua S, Megan C, Mesa T, Nuñez L, von Oertzen TJ, Perucca E, Pullen A, Ronen GM, Sajatovic M, Singh MB, Wilmshurst JM, Wollscheid L, Berg AT. Mitchell JW, et al. Among authors: ben zeev b. Epilepsia. 2024 Jul;65(7):1938-1961. doi: 10.1111/epi.17976. Epub 2024 May 17. Epilepsia. 2024. PMID: 38758635
Autoimmune encephalitis in Israeli children - A retrospective nationwide study.
Sachs N, Zohar-Dayan E, Ben Zeev B, Gilboa T, Kurd M, Latzer IT, Meirson H, Krause I, Dizitzer Y, Cohen EG. Sachs N, et al. Among authors: ben zeev b. Eur J Paediatr Neurol. 2024 May;50:1-5. doi: 10.1016/j.ejpn.2024.03.001. Epub 2024 Mar 15. Eur J Paediatr Neurol. 2024. PMID: 38518418
A Systematic Review and Clinical Presentation of Central Nervous System Complications of Severe Acute Respiratory Syndrome Coronavirus 2 in Hospitalized Pediatric Patients During the Coronavirus Disease 2019 Pandemic in Israel.
Jurkowicz M, Leibovitz E, Ben-Zeev B, Keller N, Kriger O, Sherman G, Amit S, Barkai G, Mandelboim M, Stein M. Jurkowicz M, et al. Among authors: ben zeev b. Pediatr Neurol. 2024 Apr;153:68-76. doi: 10.1016/j.pediatrneurol.2024.01.008. Epub 2024 Jan 11. Pediatr Neurol. 2024. PMID: 38335916 Free article.
193 results