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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1990 1
1996 1
1999 1
2001 3
2003 1
2004 4
2005 2
2007 2
2008 1
2009 1
2010 2
2011 2
2012 1
2013 2
2014 4
2015 3
2017 1
2018 1
2019 4
2021 7
2022 3
2023 1
2024 0

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43 results

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Page 1
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Richard EM, et al. Among authors: ekstein j. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003. Am J Hum Genet. 2021. PMID: 34626583 Free PMC article.
Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndrome.
Kitamura RA, Maxwell KG, Ye W, Kries K, Brown CM, Augsornworawat P, Hirsch Y, Johansson MM, Weiden T, Ekstein J, Cohen J, Klee J, Leslie K, Simeonov A, Henderson MJ, Millman JR, Urano F. Kitamura RA, et al. Among authors: ekstein j. JCI Insight. 2022 Sep 22;7(18):e156549. doi: 10.1172/jci.insight.156549. JCI Insight. 2022. PMID: 36134655 Free PMC article.
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
Helman G, Zerem A, Almad A, Hacker JL, Woidill S, Sase S, LeFevre AN, Ekstein J, Johansson MM, Stutterd CA, Taft RJ, Simons C, Grinspan JB, Pizzino A, Schmidt JL, Harding B, Hirsch Y, Viaene AN, Fattal-Valevski A, Vanderver A. Helman G, et al. Among authors: ekstein j. Pediatr Neurol. 2021 Aug;121:11-19. doi: 10.1016/j.pediatrneurol.2021.04.014. Epub 2021 May 14. Pediatr Neurol. 2021. PMID: 34111619 Free PMC article.
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
Machado RD, Welch CL, Haimel M, Bleda M, Colglazier E, Coulson JD, Debeljak M, Ekstein J, Fineman JR, Golden WC, Griffin EL, Hadinnapola C, Harris MA, Hirsch Y, Hoover-Fong JE, Nogee L, Romer LH, Vesel S; NIHR Bioresource – Rare Diseases; Gräf S, Morrell NW, Southgate L, Chung WK. Machado RD, et al. Among authors: ekstein j. J Med Genet. 2022 Sep;59(9):906-911. doi: 10.1136/jmedgenet-2021-107831. Epub 2021 Sep 7. J Med Genet. 2022. PMID: 34493544 Free PMC article.
Cardif (MAVS) Regulates the Maturation of NK Cells.
Haynes LD, Verma S, McDonald B, Wu R, Tacke R, Nowyhed HN, Ekstein J, Feuvrier A, Benedict CA, Hedrick CC. Haynes LD, et al. Among authors: ekstein j. J Immunol. 2015 Sep 1;195(5):2157-67. doi: 10.4049/jimmunol.1402060. Epub 2015 Jul 31. J Immunol. 2015. PMID: 26232430 Free PMC article.
43 results