Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
2002 1
2005 1
2006 2
2007 3
2008 2
2009 2
2010 1
2011 4
2012 9
2013 4
2014 1
2015 3
2016 3
2017 3
2018 8
2019 9
2020 7
2021 8
2022 0
Text availability
Article attribute
Article type
Publication date

Search Results

61 results
Results by year
Filters applied: . Clear all
Page 1
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Among authors: van de laar imbh. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B. Schepers D, et al. Among authors: van de laar i. Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6. Hum Mutat. 2018. PMID: 29392890 Free PMC article.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM. Haijes HA, et al. Among authors: van de laar imbh. Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353023 Free PMC article.
Psychological well-being in patients with aneurysms-osteoarthritis syndrome.
Bons LR, van den Hoven AT, Damirchi AE, van der Linde D, Dekker S, Kauling RM, van de Laar IMBH, Utens EMWJ, Budde RPJ, Roos-Hesselink JW. Bons LR, et al. Among authors: van de laar imbh. Am J Med Genet A. 2019 Aug;179(8):1491-1497. doi: 10.1002/ajmg.a.61209. Epub 2019 May 27. Am J Med Genet A. 2019. PMID: 31132219 Free PMC article.
Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.
De Backer J, Bondue A, Budts W, Evangelista A, Gallego P, Jondeau G, Loeys B, Peña ML, Teixido-Tura G, van de Laar I, Verstraeten A, Roos Hesselink J. De Backer J, et al. Among authors: van de laar i. Eur J Prev Cardiol. 2020 Sep;27(13):1423-1435. doi: 10.1177/2047487319854552. Epub 2019 Jun 11. Eur J Prev Cardiol. 2020. PMID: 31184212 Review.
Pregnancy in Women With SMAD3 Mutation.
van Hagen IM, van der Linde D, van de Laar IM, Muiño Mosquera L, De Backer J, Roos-Hesselink JW. van Hagen IM, et al. Among authors: van de laar im. J Am Coll Cardiol. 2017 Mar 14;69(10):1356-1358. doi: 10.1016/j.jacc.2016.12.029. J Am Coll Cardiol. 2017. PMID: 28279300 Free article. No abstract available.
Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.
Verhagen JMA, Kempers M, Cozijnsen L, Bouma BJ, Duijnhouwer AL, Post JG, Hilhorst-Hofstee Y, Bekkers SCAM, Kerstjens-Frederikse WS, van Brakel TJ, Lambermon E, Wessels MW, Loeys BL, Roos-Hesselink JW, van de Laar IMBH; National Working Group on BAV & TAA. Verhagen JMA, et al. Among authors: van de laar imbh. Int J Cardiol. 2018 May 1;258:243-248. doi: 10.1016/j.ijcard.2018.01.145. Epub 2018 Feb 7. Int J Cardiol. 2018. PMID: 29452988 Free article. Review.
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: van de laar imbh. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769
Blood biomarkers in patients with bicuspid aortic valve disease.
Bons LR, Geenen LW, van den Hoven AT, Dik WA, van den Bosch AE, Duijnhouwer AL, Siebelink HJ, Budde RPJ, Boersma E, Wessels MW, van de Laar IMBH, DeRuiter MC, Goumans MJ, Loeys BL, Roos-Hesselink JW. Bons LR, et al. Among authors: van de laar imbh. J Cardiol. 2020 Sep;76(3):287-294. doi: 10.1016/j.jjcc.2020.02.023. Epub 2020 Apr 4. J Cardiol. 2020. PMID: 32265086 Free article.
Diploid/triploid mosaicism in dysmorphic patients.
van de Laar I, Rabelink G, Hochstenbach R, Tuerlings J, Hoogeboom J, Giltay J. van de Laar I, et al. Clin Genet. 2002 Nov;62(5):376-82. doi: 10.1034/j.1399-0004.2002.620504.x. Clin Genet. 2002. PMID: 12431252 Review.
61 results