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

Year Number of Results
1992 1
1994 2
1995 3
1996 1
1997 2
1998 1
1999 2
2000 4
2001 4
2002 3
2003 1
2004 1
2005 2
2006 1
2010 2
2011 1
2014 2
2015 1
2016 2
2019 1
2024 0

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36 results

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Page 1
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.
Houweling AC, Beaman GM, Postma AV, Gainous TB, Lichtenbelt KD, Brancati F, Lopes FM, van der Made I, Polstra AM, Robinson ML, Wright KD, Ellingford JM, Jackson AR, Overwater E, Genesio R, Romano S, Camerota L, D'Angelo E, Meijers-Heijboer EJ, Christoffels VM, McHugh KM, Black BL, Newman WG, Woolf AS, Creemers EE. Houweling AC, et al. Among authors: meijers heijboer ej. J Clin Invest. 2019 Dec 2;129(12):5374-5380. doi: 10.1172/JCI128545. J Clin Invest. 2019. PMID: 31513549 Free PMC article.
Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).
Taschner PE, de Vos N, Post JG, Meijers-Heijboer EJ, Hofman I, Loonen MC, Pinckers AJ, Bleeker-Wagemakers EM, Gardiner RM, Breuning MH. Taschner PE, et al. Among authors: meijers heijboer ej. Am J Med Genet. 1995 Jun 5;57(2):333-7. doi: 10.1002/ajmg.1320570246. Am J Med Genet. 1995. PMID: 7668358 Free article.
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Beunders G, de Munnik SA, Van der Aa N, Ceulemans B, Voorhoeve E, Groffen AJ, Nillesen WM, Meijers-Heijboer EJ, Frank Kooy R, Yntema HG, Sistermans EA. Beunders G, et al. Among authors: meijers heijboer ej. Eur J Hum Genet. 2015 Jun;23(6):803-7. doi: 10.1038/ejhg.2014.173. Epub 2014 Sep 10. Eur J Hum Genet. 2015. PMID: 25205402 Free PMC article.
Survival in hereditary breast cancer associated with germline mutations of BRCA2.
Verhoog LC, Brekelmans CT, Seynaeve C, Dahmen G, van Geel AN, Bartels CC, Tilanus-Linthorst MM, Wagner A, Devilee P, Halley DJ, van den Ouweland AM, Meijers-Heijboer EJ, Klijn JG. Verhoog LC, et al. Among authors: meijers heijboer ej. J Clin Oncol. 1999 Nov;17(11):3396-402. doi: 10.1200/JCO.1999.17.11.3396. J Clin Oncol. 1999. PMID: 10550133
36 results