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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: mathijssen imj. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study.
van der Plas PPJM, van Heesch GGM, Koudstaal MJ, Pullens B, Mathijssen IMJ, Bernard SE, Wolvius EB, Joosten KFM. van der Plas PPJM, et al. Among authors: mathijssen imj. Cleft Palate Craniofac J. 2023 Sep 20:10556656231199840. doi: 10.1177/10556656231199840. Online ahead of print. Cleft Palate Craniofac J. 2023. PMID: 37728101 Free article.
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.
Carton C, Evans DG, Blanco I, Friedrich RE, Ferner RE, Farschtschi S, Salvador H, Azizi AA, Mautner V, Röhl C, Peltonen S, Stivaros S, Legius E, Oostenbrink R; ERN GENTURIS NF1 Tumour Management Guideline Group. Carton C, et al. EClinicalMedicine. 2023 Jan 13;56:101818. doi: 10.1016/j.eclinm.2022.101818. eCollection 2023 Feb. EClinicalMedicine. 2023. PMID: 36684394 Free PMC article. Review.
Quality of life in children suffering from headaches: a systematic literature review.
Ombashi S, Tsangaris E, Heeres AG, van Roey V, Neuteboom RF, van Veelen-Vincent MLC, Jansson K, Mathijssen IMJ, Klassen AF, Versnel SL. Ombashi S, et al. Among authors: mathijssen imj. J Headache Pain. 2023 Sep 18;24(1):127. doi: 10.1186/s10194-023-01595-0. J Headache Pain. 2023. PMID: 37718449 Free PMC article. Review.
Comparison of two surgical protocols for the treatment of unilateral cleft lip and palate: a multidisciplinary systematic review and meta-analysis.
van Roey VL, Ombashi S, Pleumeekers MM, Mathijssen IMJ, Mink van der Molen AB, Munill M, Versnel SL. van Roey VL, et al. Among authors: mathijssen imj. Int J Oral Maxillofac Surg. 2024 Apr 24:S0901-5027(24)00097-3. doi: 10.1016/j.ijom.2024.04.003. Online ahead of print. Int J Oral Maxillofac Surg. 2024. PMID: 38664107 Free article. Review.
191 results