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PPIB mutations cause severe osteogenesis imperfecta.
van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM, van Roij MH, Elting MW, Verbeke JI, Wijnaendts LC, Shaw NJ, Högler W, McKeown C, Sistermans EA, Dalton A, Meijers-Heijboer H, Pals G. van Dijk FS, et al. Among authors: cobben jm. Am J Hum Genet. 2009 Oct;85(4):521-7. doi: 10.1016/j.ajhg.2009.09.001. Epub 2009 Sep 24. Am J Hum Genet. 2009. PMID: 19781681 Free PMC article.
Fishing for a diagnosis.
Duijvestijn YC, Cobben JM, Leegte B, de Vries TW. Duijvestijn YC, et al. Among authors: cobben jm. Genet Couns. 2002;13(1):49-54. Genet Couns. 2002. PMID: 12017238
Trisomy 4 mosaicism: Delineation of the phenotype.
Bouman A, van der Kevie-Kersemaekers AM, Huijsdens-van Amsterdam K, Dahhan N, Knegt L, Vansenne F, Cobben JM. Bouman A, et al. Among authors: cobben jm. Am J Med Genet A. 2016 Apr;170A(4):1040-5. doi: 10.1002/ajmg.a.37522. Epub 2016 Jan 20. Am J Med Genet A. 2016. PMID: 26789019
Bilateral split hand/foot malformation and inv(7)(p22q21.3).
Cobben JM, Verheij JB, Eisma WH, Robinson PH, Zwierstra RP, Leegte B, Castedo S. Cobben JM, et al. J Med Genet. 1995 May;32(5):375-8. doi: 10.1136/jmg.32.5.375. J Med Genet. 1995. PMID: 7616545 Free PMC article.
134 results