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

Year Number of Results
1993 1
1997 1
1999 2
2000 1
2005 2
2006 2
2007 2
2008 3
2009 2
2010 5
2011 6
2012 3
2013 1
2015 6
2016 1
2017 2
2018 2
2019 3
2020 3
2021 3
2022 2
2023 4
2024 0

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54 results

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Page 1
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R. Le Duc D, et al. Among authors: strober j. Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198. Brain. 2019. PMID: 31327001 Free PMC article.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Among authors: strober j. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
Sphingosine Phosphate Lyase Insufficiency Syndrome.
Weaver KN, Sullivan B, Hildebrandt F, Strober J, Cooper M, Prasad R, Saba J. Weaver KN, et al. Among authors: strober j. 2020 Oct 15. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2020 Oct 15. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 33074640 Free Books & Documents. Review.
Pediatric multiple sclerosis.
Chabas D, Strober J, Waubant E. Chabas D, et al. Among authors: strober j. Curr Neurol Neurosci Rep. 2008 Sep;8(5):434-41. doi: 10.1007/s11910-008-0067-1. Curr Neurol Neurosci Rep. 2008. PMID: 18713581 Review.
Pediatric multiple sclerosis.
Chitnis T, Krupp L, Yeh A, Rubin J, Kuntz N, Strober JB, Chabas D, Weinstock-Guttmann B, Ness J, Rodriguez M, Waubant E. Chitnis T, et al. Among authors: strober jb. Neurol Clin. 2011 May;29(2):481-505. doi: 10.1016/j.ncl.2011.01.004. Neurol Clin. 2011. PMID: 21439455
Sexual and Gender Diversity in Pediatric Neurology: Why We Care.
Christy A, Martindale J, Hranilovich J, Orozco-Poore C, Kernan-Schloss F, Anderson CTM, Strober J, Mitchell W, Lerario MP. Christy A, et al. Among authors: strober j. Pediatr Neurol. 2023 Aug;145:28-29. doi: 10.1016/j.pediatrneurol.2023.04.012. Epub 2023 Apr 20. Pediatr Neurol. 2023. PMID: 37257397 No abstract available.
Infant botulism: review and clinical update.
Rosow LK, Strober JB. Rosow LK, et al. Among authors: strober jb. Pediatr Neurol. 2015 May;52(5):487-92. doi: 10.1016/j.pediatrneurol.2015.01.006. Epub 2015 Jan 21. Pediatr Neurol. 2015. PMID: 25882077 Review.
Progressive spinal muscular atrophies.
Strober JB, Tennekoon GI. Strober JB, et al. J Child Neurol. 1999 Nov;14(11):691-5. doi: 10.1177/088307389901401101. J Child Neurol. 1999. PMID: 10593543 Review.
54 results