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

Year Number of Results
1949 5
1953 2
1957 1
1962 1
1963 1
1964 1
1966 3
1967 1
1968 3
1969 2
1970 1
1971 3
1972 2
1973 2
1975 1
1980 1
1982 2
1983 1
1985 1
1992 1
1993 1
1994 1
1996 2
1998 2
1999 2
2001 2
2002 1
2004 1
2005 3
2006 8
2007 7
2008 10
2009 16
2010 16
2011 20
2012 18
2013 22
2014 23
2015 20
2016 23
2017 25
2018 18
2019 30
2020 23
2021 25
2022 21
2023 11
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Article type
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Search Results

345 results
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Page 1
Kleefstra Syndrome.
Kleefstra T, de Leeuw N. Kleefstra T, et al. Among authors: de leeuw n. 2010 Oct 5 [updated 2023 Jan 26]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2010 Oct 5 [updated 2023 Jan 26]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20945554 Free Books & Documents. Review.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: de leeuw n. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Coe BP, et al. Among authors: de leeuw n. Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14. Nat Genet. 2014. PMID: 25217958 Free PMC article.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France; Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Among authors: de leeuw n. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109418 Free PMC article.
Hoe herkent u het zeldzame Phelan-McDermidsyndroom?
Verhoeven W, Houwink E, de Leeuw N, Egger J. Verhoeven W, et al. Among authors: de leeuw n. Huisarts Wet. 2021;64(11):68-70. doi: 10.1007/s12445-021-1292-y. Epub 2021 Oct 7. Huisarts Wet. 2021. PMID: 34658402 Free PMC article. Dutch.
Theory: general discussion.
Anand M, Baletto F, Bugaev A, Catlow R, Claeys M, Conway M, Davidson M, Davies P, de Leeuw N, Eremin D, Fischer N, Hargreaves J, Hutchings G, Iyer J, Jain D, Jameel F, Kamali AR, Kondrat S, Kowalec I, Kraus P, Reece C, Réocreux R, Santos-Carballal D, Seavill PW, Shozi M, Sinev M, Sinha V, Stamatakis M, Uner D, Vojvodic A, Whiston K, Willock D, Wolf M, Yang B, Zhu B. Anand M, et al. Among authors: de leeuw n. Faraday Discuss. 2021 May 1;229:131-160. doi: 10.1039/d1fd90030g. Epub 2021 May 19. Faraday Discuss. 2021. PMID: 34008631 No abstract available.
European guidelines for constitutional cytogenomic analysis.
Silva M, de Leeuw N, Mann K, Schuring-Blom H, Morgan S, Giardino D, Rack K, Hastings R. Silva M, et al. Among authors: de leeuw n. Eur J Hum Genet. 2019 Jan;27(1):1-16. doi: 10.1038/s41431-018-0244-x. Epub 2018 Oct 1. Eur J Hum Genet. 2019. PMID: 30275486 Free PMC article. Review.
Thermal catalytic conversion: general discussion.
Armstrong K, Barbarino S, Cao XE, Cassiola F, Catlow RA, Claeys M, Conway M, Cowan AJ, de Leeuw NH, Dowson GRM, Fischer N, Ghaderian A, Ghosh S, Kamali AR, Khan S, Kyrimis S, Lawes N, Leitner W, Maneiro M, Manyar H, Marquart W, McCord S, Moore E, North M, Olsbye U, Pant D, Poon J, Quesne MG, Ranocchiari M, Rossi L, Ruiz Esquius J, Shozi M, Sick V, Styring P, Tan J, Tanzer SE, Thomas O, Whiston K, Wolf M. Armstrong K, et al. Among authors: de leeuw nh. Faraday Discuss. 2021 Jul 16;230(0):124-151. doi: 10.1039/d1fd90045e. Faraday Discuss. 2021. PMID: 34226907 No abstract available.
Advances in Sustainable Catalysis: A Computational Perspective.
Quesne MG, Silveri F, de Leeuw NH, Catlow CRA. Quesne MG, et al. Among authors: de leeuw nh. Front Chem. 2019 Apr 12;7:182. doi: 10.3389/fchem.2019.00182. eCollection 2019. Front Chem. 2019. PMID: 31032245 Free PMC article. Review.
Phenotype of COL3A1/COL5A2 deletion patients.
Kempers MJ, Wessels M, Van Berendoncks A, van de Laar IM, de Leeuw N, Loeys B. Kempers MJ, et al. Among authors: de leeuw n. Eur J Med Genet. 2022 Oct;65(10):104593. doi: 10.1016/j.ejmg.2022.104593. Epub 2022 Aug 11. Eur J Med Genet. 2022. PMID: 35964930 Free article.
345 results