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5
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5
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"Schuurs-Hoeijmakers" syndrome
- ... Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet. 2011 Jun;48(6):390- ...
- ... 37476. Epub 2016 Feb 3. Citation on PubMed ... recognizable intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91( ...
- ... Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, ... SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat ...
- ... Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans ...
- ... Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens ...