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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 20
2009 15
2010 10
2011 11
2012 10
2013 11
2014 13
2015 14
2016 12
2017 9
2018 11
2019 11
2020 15
2021 12
2022 13
2023 5
2024 0

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301 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
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.
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.
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
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.
Alpha-fetoprotein, a fascinating protein and biomarker in neurology.
Schieving JH, de Vries M, van Vugt JM, Weemaes C, van Deuren M, Nicolai J, Wevers RA, Willemsen MA. Schieving JH, et al. Among authors: nicolai j. Eur J Paediatr Neurol. 2014 May;18(3):243-8. doi: 10.1016/j.ejpn.2013.09.003. Epub 2013 Sep 29. Eur J Paediatr Neurol. 2014. PMID: 24120489 Review.
301 results