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

Year Number of Results
1990 3
1991 2
1993 5
1995 2
1996 2
2000 1
2001 1
2008 2
2009 2
2010 1
2011 2
2012 6
2013 2
2014 5
2015 4
2016 4
2017 3
2018 6
2019 4
2020 4
2021 6
2022 4
2023 8
2024 1

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71 results

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Page 1
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
van Jaarsveld RH, Reilly J, Cornips MC, Hadders MA, Agolini E, Ahimaz P, Anyane-Yeboa K, Bellanger SA, van Binsbergen E, van den Boogaard MJ, Brischoux-Boucher E, Caylor RC, Ciolfi A, van Essen TAJ, Fontana P, Hopman S, Iascone M, Javier MM, Kamsteeg EJ, Kerkhof J, Kido J, Kim HG, Kleefstra T, Lonardo F, Lai A, Lev D, Levy MA, Lewis MES, Lichty A, Mannens MMAM, Matsumoto N, Maya I, McConkey H, Megarbane A, Michaud V, Miele E, Niceta M, Novelli A, Onesimo R, Pfundt R, Popp B, Prijoles E, Relator R, Redon S, Rots D, Rouault K, Saida K, Schieving J, Tartaglia M, Tenconi R, Uguen K, Verbeek N, Walsh CA, Yosovich K, Yuskaitis CJ, Zampino G, Sadikovic B, Alders M, Oegema R. van Jaarsveld RH, et al. Among authors: van den boogaard mj. Genet Med. 2023 Jan;25(1):49-62. doi: 10.1016/j.gim.2022.09.006. Epub 2022 Nov 1. Genet Med. 2023. PMID: 36322151 Free PMC article.
The ontogeny of Robin sequence.
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG. Logjes RJH, et al. Am J Med Genet A. 2018 Jun;176(6):1349-1368. doi: 10.1002/ajmg.a.38718. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696787 Review.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Among authors: van den boogaard mj. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
Genetic outcomes in children with developmental language disorder: a systematic review.
van Wijngaarden V, de Wilde H, Mink van der Molen D, Petter J, Stegeman I, Gerrits E, Smit AL, van den Boogaard MJ. van Wijngaarden V, et al. Among authors: van den boogaard mj. Front Pediatr. 2024 Jan 17;12:1315229. doi: 10.3389/fped.2024.1315229. eCollection 2024. Front Pediatr. 2024. PMID: 38298611 Free PMC article. Review.
[Is there more to hypodontia then missing teeth?].
Ross JN, Ruigrok LC, Fennis WMM, Cune MS, Rosenberg AJWP, van Nunen AB, Créton MA, Ploos van Amstel HK, van den Boogaard MJJH. Ross JN, et al. Among authors: van den boogaard mjjh. Ned Tijdschr Tandheelkd. 2023 Jun;130(6):277-286. doi: 10.5177/ntvt.2023.06.22098. Ned Tijdschr Tandheelkd. 2023. PMID: 37279496 Dutch.
Microtia in the Netherlands: clinical characteristics and associated anomalies.
van Nunen DP, Kolodzynski MN, van den Boogaard MJ, Kon M, Breugem CC. van Nunen DP, et al. Among authors: van den boogaard mj. Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):954-9. doi: 10.1016/j.ijporl.2014.03.024. Epub 2014 Mar 30. Int J Pediatr Otorhinolaryngol. 2014. PMID: 24745583 Review.
The Peters'-Plus syndrome: description of 16 patients and review of the literature.
Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, Seguin JH, Weatherstone KB, Wittebol-Post D, Meinecke P. Hennekam RC, et al. Among authors: van den boogaard mj. Clin Dysmorphol. 1993 Oct;2(4):283-300. Clin Dysmorphol. 1993. PMID: 7508316 Review.
71 results