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Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).
Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G. Monroe GR, et al. Among authors: van es rj, van den boogaard mh, van der veken lt, van haaften g. Eur J Hum Genet. 2016 Dec;24(12):1752-1760. doi: 10.1038/ejhg.2016.103. Epub 2016 Aug 17. Eur J Hum Genet. 2016. PMID: 27530628 Free PMC article.
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.
Ramirez-Martinez A, Zhang Y, van den Boogaard MJ, McAnally JR, Rodriguez-Caycedo C, Chai AC, Chemello F, Massink MP, Cuppen I, Elferink MG, van Es RJ, Janssen NG, Walraven-van Oijen LP, Liu N, Bassel-Duby R, van Jaarsveld RH, Olson EN. Ramirez-Martinez A, et al. Among authors: van jaarsveld rh, van es rj, van den boogaard mj. J Clin Invest. 2022 Jun 1;132(11):e159002. doi: 10.1172/JCI159002. J Clin Invest. 2022. PMID: 35642635 Free PMC article.
Midfacial growth and dental arch relationships in bilateral cleft palate following secondary alveolar bone grafting and orthodontic intervention: Factors predicting a Le Fort I osteotomy at age 18.
Bittermann GKP, de Ruiter AP, Bittermann AJ, Mink van de Molen AB, van Es RJ, Koole R, Rosenberg AJ. Bittermann GKP, et al. Among authors: van es rj. J Craniomaxillofac Surg. 2018 Oct;46(10):1764-1771. doi: 10.1016/j.jcms.2018.07.014. Epub 2018 Jul 26. J Craniomaxillofac Surg. 2018. PMID: 30100383
Osteosarcoma of the jaw bones. Long-term follow up of 48 cases.
van Es RJ, Keus RB, van der Waal I, Koole R, Vermey A. van Es RJ, et al. Among authors: van der waal i. Int J Oral Maxillofac Surg. 1997 Jun;26(3):191-7. doi: 10.1016/s0901-5027(97)80818-1. Int J Oral Maxillofac Surg. 1997. PMID: 9180229
121 results