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

Year Number of Results
1996 1
1998 1
1999 1
2000 5
2001 1
2004 3
2005 9
2006 5
2007 5
2008 3
2009 3
2010 4
2011 3
2012 5
2013 1
2015 5
2016 1
2017 1
2018 7
2019 3
2020 5
2021 3
2022 1
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68 results
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Page 1
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Among authors: van hagen jm. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
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 hagen jm. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A. Overwater E, et al. Among authors: van hagen jm. Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907982 Free PMC article.
Rendu-Osler-Weber disease: update of medical and dental considerations.
te Veldhuis EC, te Veldhuis AH, van Dijk FS, Kwee ML, van Hagen JM, Baart JA, van der Waal I. te Veldhuis EC, et al. Among authors: van hagen jm. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Feb;105(2):e38-41. doi: 10.1016/j.tripleo.2007.08.017. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008. PMID: 18230376 Review.
[Syndromes 21: Ellis-Van Creveld syndrome].
Baart JA, van Hagen JM. Baart JA, et al. Among authors: van hagen jm. Ned Tijdschr Tandheelkd. 2000 Jun;107(6):242-3. Ned Tijdschr Tandheelkd. 2000. PMID: 11385805 Review. Dutch.
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Dias C, Pfundt R, Kleefstra T, Shuurs-Hoeijmakers J, Boon EMJ, van Hagen JM, Zwijnenburg P, Weiss MM, Keren B, Mignot C, Isapof A, Weiss K, Hershkovitz T, Iascone M, Maitz S, Feichtinger RG, Kotzot D, Mayr JA, Ben-Omran T, Mahmoud L, Pais LS, Walsh CA, Shashi V, Sullivan JA, Stong N, Lecoquierre F, Guerrot AM, Charollais A, Rodan LH. Dias C, et al. Among authors: van hagen jm. Am J Med Genet A. 2021 Aug;185(8):2384-2390. doi: 10.1002/ajmg.a.62254. Epub 2021 May 18. Am J Med Genet A. 2021. PMID: 34003604
[Syndromes 17. Hypohidrotic ectodermal dysplasia].
Baart JA, van Hagen JM. Baart JA, et al. Among authors: van hagen jm. Ned Tijdschr Tandheelkd. 2000 Jan;107(1):12-4. Ned Tijdschr Tandheelkd. 2000. PMID: 12621820 Review. Dutch.
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
Carvalhal S, Bader I, Rooimans MA, Oostra AB, Balk JA, Feichtinger RG, Beichler C, Speicher MR, van Hagen JM, Waisfisz Q, van Haelst M, Bruijn M, Tavares A, Mayr JA, Wolthuis RMF, Oliveira RA, de Lange J. Carvalhal S, et al. Among authors: van hagen jm. Sci Adv. 2022 Jan 21;8(3):eabk0114. doi: 10.1126/sciadv.abk0114. Epub 2022 Jan 19. Sci Adv. 2022. PMID: 35044816
[Syndromes 22. Rieger's syndrome].
Baart JA, van Hagen JM, Swart-van der Berg M. Baart JA, et al. Among authors: van hagen jm. Ned Tijdschr Tandheelkd. 2000 Aug;107(8):332-3. Ned Tijdschr Tandheelkd. 2000. PMID: 11383023 Review. Dutch.
68 results