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Year Number of Results
1966 1
1991 1
1992 1
1993 2
1998 2
1999 3
2001 2
2002 2
2004 2
2005 1
2006 4
2007 1
2008 3
2009 4
2010 2
2011 1
2012 1
2013 1
2014 2
2015 5
2016 9
2017 10
2018 11
2019 6
2020 9
2021 11
2022 6
2023 1
2024 1

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93 results

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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Among authors: bar yosef o. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Among authors: bar yosef o. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Congenital hypotonia: systematic approach for prenatal detection.
Weissbach T, Hausman-Kedem M, Yanay Z, Meyer R, Bar-Yosef O, Leibovitch L, Berkenstadt M, Chorin O, Shani H, Massarwa A, Achiron R, Weisz B, Sharon R, Mazaki-Tovi S, Kassif E. Weissbach T, et al. Among authors: bar yosef o. Ultrasound Obstet Gynecol. 2023 Jul;62(1):94-105. doi: 10.1002/uog.26178. Ultrasound Obstet Gynecol. 2023. PMID: 36779229
Mitochondrial augmentation of hematopoietic stem cells in children with single large-scale mitochondrial DNA deletion syndromes.
Jacoby E, Bar-Yosef O, Gruber N, Lahav E, Varda-Bloom N, Bolkier Y, Bar D, Blumkin MB, Barak S, Eisenstein E, Ahonniska-Assa J, Silberg T, Krasovsky T, Bar O, Erez N, Bielorai B, Golan H, Dekel B, Besser MJ, Pozner G, Khoury H, Jacobs A, Campbell J, Herskovitz E, Sher N, Yivgi-Ohana N, Anikster Y, Toren A. Jacoby E, et al. Among authors: bar yosef o. Sci Transl Med. 2022 Dec 21;14(676):eabo3724. doi: 10.1126/scitranslmed.abo3724. Epub 2022 Dec 21. Sci Transl Med. 2022. PMID: 36542693
Agricultural origins on the Anatolian plateau.
Baird D, Fairbairn A, Jenkins E, Martin L, Middleton C, Pearson J, Asouti E, Edwards Y, Kabukcu C, Mustafaoğlu G, Russell N, Bar-Yosef O, Jacobsen G, Wu X, Baker A, Elliott S. Baird D, et al. Among authors: bar yosef o. Proc Natl Acad Sci U S A. 2018 Apr 3;115(14):E3077-E3086. doi: 10.1073/pnas.1800163115. Epub 2018 Mar 19. Proc Natl Acad Sci U S A. 2018. PMID: 29555740 Free PMC article.
Felbamate for pediatric epilepsy-should we keep on using it as the last resort?
Rabinowicz S, Schreiber T, Heimer G, Bar-Yosef O, Nissenkorn A, E ZD, Arkush L, Hamed N, Ben-Zeev B, Tzadok M. Rabinowicz S, et al. Among authors: bar yosef o. Front Neurol. 2022 Sep 20;13:979725. doi: 10.3389/fneur.2022.979725. eCollection 2022. Front Neurol. 2022. PMID: 36203978 Free PMC article.
30,000-year-old wild flax fibers.
Kvavadze E, Bar-Yosef O, Belfer-Cohen A, Boaretto E, Jakeli N, Matskevich Z, Meshveliani T. Kvavadze E, et al. Among authors: bar yosef o. Science. 2009 Sep 11;325(5946):1359. doi: 10.1126/science.1175404. Science. 2009. PMID: 19745144
Dating hominid remains.
Bar-Yosef O, Pilbeam D. Bar-Yosef O, et al. Nature. 1993 Dec 2;366(6454):415. doi: 10.1038/366415a0. Nature. 1993. PMID: 8247148 No abstract available.
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. Baker EK, et al. Among authors: bar yosef o. Am J Med Genet A. 2022 Nov;188(11):3262-3277. doi: 10.1002/ajmg.a.62946. Epub 2022 Aug 15. Am J Med Genet A. 2022. PMID: 36209351
93 results