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Year Number of Results
1952 1
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1957 1
1959 1
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1991 4
1992 5
1993 2
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1995 1
1996 4
1997 2
1998 3
1999 10
2000 2
2001 1
2002 4
2003 5
2004 4
2005 4
2006 3
2007 1
2008 4
2009 7
2010 10
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132 results

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Page 1
Central 22q11.2 deletions.
Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM. Rump P, et al. Among authors: van essen aj. Am J Med Genet A. 2014 Nov;164A(11):2707-23. doi: 10.1002/ajmg.a.36711. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25123976
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard MJ, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, van Gassen KL, Guillen Sacoto MJ, van Haelst MM, Iossifov I, Jackson JL, Judd E, Kaiwar C, Keren B, Klee EW, Klein Wassink-Ruiter JS, Meuwissen ME, Monaghan KG, de Munnik SA, Nava C, Ockeloen CW, Pettinato R, Racher H, Rinne T, Romano C, Sanders VR, Schnur RE, Smeets EJ, Stegmann APA, Stray-Pedersen A, Sweetser DA, Terhal PA, Tveten K, VanNoy GE, de Vries PF, Waxler JL, Willing M, Pfundt R, Veltman JA, Kooy RF, Vissers LELM, de Vries BBA. Jansen S, et al. Among authors: van essen aj. Eur J Hum Genet. 2019 May;27(5):738-746. doi: 10.1038/s41431-018-0292-2. Epub 2019 Jan 24. Eur J Hum Genet. 2019. PMID: 30679813 Free PMC article.
Cerebro-costo-mandibular syndrome.
Plötz FB, van Essen AJ, Bosschaart AN, Bos AP. Plötz FB, et al. Among authors: van essen aj. Am J Med Genet. 1996 Mar 29;62(3):286-92. doi: 10.1002/(SICI)1096-8628(19960329)62:3<286::AID-AJMG16>3.0.CO;2-G. Am J Med Genet. 1996. PMID: 8882789 Review.
Epilepsy in KCNH1-related syndromes.
Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V. Mastrangelo M, et al. Among authors: van essen aj. Epileptic Disord. 2016 Jun 1;18(2):123-36. doi: 10.1684/epd.2016.0830. Epileptic Disord. 2016. PMID: 27267311
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM. Krzyzewska IM, et al. Among authors: van essen aj. Clin Epigenetics. 2019 Nov 4;11(1):156. doi: 10.1186/s13148-019-0749-3. Clin Epigenetics. 2019. PMID: 31685013 Free PMC article.
Phenotypic variability of Cat-Eye syndrome.
Berends MJ, Tan-Sindhunata G, Leegte B, van Essen AJ. Berends MJ, et al. Among authors: van essen aj. Genet Couns. 2001;12(1):23-34. Genet Couns. 2001. PMID: 11332976 Review.
Bovine myoblast cell production in a microcarriers-based system.
Verbruggen S, Luining D, van Essen A, Post MJ. Verbruggen S, et al. Among authors: van essen a. Cytotechnology. 2018 Apr;70(2):503-512. doi: 10.1007/s10616-017-0101-8. Epub 2017 May 3. Cytotechnology. 2018. PMID: 28470539 Free PMC article.
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC. Huisman S, et al. Among authors: van essen a. Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26. Am J Med Genet A. 2017. PMID: 28548707
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
Bramswig NC, Ockeloen CW, Czeschik JC, van Essen AJ, Pfundt R, Smeitink J, Poll-The BT, Engels H, Strom TM, Wieczorek D, Kleefstra T, Lüdecke HJ. Bramswig NC, et al. Among authors: van essen aj. Hum Genet. 2015 Oct;134(10):1089-97. doi: 10.1007/s00439-015-1590-1. Epub 2015 Aug 12. Hum Genet. 2015. PMID: 26264464
132 results