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

Year Number of Results
1965 2
1966 2
1968 1
1973 1
1976 1
1979 3
1980 4
1981 7
1982 4
1983 5
1984 3
1985 1
1986 4
1987 3
1988 6
1989 2
1990 4
1991 1
1992 3
1993 3
1994 5
1995 5
1996 2
1997 1
1998 3
1999 4
2000 10
2001 7
2002 2
2003 12
2004 4
2005 8
2006 14
2007 12
2008 21
2009 16
2010 11
2011 11
2012 10
2013 12
2014 13
2015 17
2016 14
2017 11
2018 12
2019 11
2020 15
2021 13
2022 14
2023 6
2024 0

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312 results

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Page 1
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M. Granadillo JL, et al. Among authors: nicolai j. J Med Genet. 2020 Oct;57(10):717-724. doi: 10.1136/jmedgenet-2019-106470. Epub 2020 Mar 9. J Med Genet. 2020. PMID: 32152250
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Among authors: nicolai j. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230
Interictal discharges and cognition.
Nicolai J, Kasteleijn-Nolst Trenité D. Nicolai J, et al. Epilepsy Behav. 2011 Sep;22(1):134-6. doi: 10.1016/j.yebeh.2011.06.010. Epub 2011 Jul 20. Epilepsy Behav. 2011. PMID: 21767995 Review.
Explantation.
Nicolai JP. Nicolai JP. Plast Reconstr Surg. 2000 Feb;105(2):809. doi: 10.1097/00006534-200002000-00071. Plast Reconstr Surg. 2000. PMID: 10697208 No abstract available.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Kayumi S, et al. Among authors: nicolai j. Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083290 Free PMC article.
[Polydactyly].
Nicolai JP, Hamel BC, Menalda GA. Nicolai JP, et al. Ned Tijdschr Geneeskd. 1990 Jan 27;134(4):157-9. Ned Tijdschr Geneeskd. 1990. PMID: 2304571 Dutch. No abstract available.
Predicting respiratory failure and outcome in pediatric Guillain-Barré syndrome.
Roodbol J, Korinthenberg R, Venema E, de Wit MY, Lingsma HF, Catsman-Berrevoets CE, Jacobs BC; Working Group GBS in Children in Germany; Austria and Switzerland and the Dutch Pediatric GBS Study Group. Roodbol J, et al. Eur J Paediatr Neurol. 2023 May;44:18-24. doi: 10.1016/j.ejpn.2023.02.007. Epub 2023 Mar 10. Eur J Paediatr Neurol. 2023. PMID: 36931152 Free article.
312 results