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Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.
de Ru MH, Gille JJ, Nieuwint AW, Bijlsma JB, van der Blij JF, van Hagen JM. de Ru MH, et al. Among authors: van der blij jf, van hagen jm. Am J Med Genet A. 2005 Aug 15;137(1):81-7. doi: 10.1002/ajmg.a.30786. Am J Med Genet A. 2005. PMID: 16015581 Review.
Segregation ratio in cranio-cerebello-cardiac syndrome.
Stellingwerff HJ, van Hagen JM, ten Kate LP. Stellingwerff HJ, et al. Among authors: van hagen jm. Eur J Hum Genet. 2006 Sep;14(9):1054-7. doi: 10.1038/sj.ejhg.5201660. Epub 2006 May 31. Eur J Hum Genet. 2006. PMID: 16736035
Rendu-Osler-Weber disease: update of medical and dental considerations.
te Veldhuis EC, te Veldhuis AH, van Dijk FS, Kwee ML, van Hagen JM, Baart JA, van der Waal I. te Veldhuis EC, et al. Among authors: van dijk fs, van der waal i, van hagen jm. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Feb;105(2):e38-41. doi: 10.1016/j.tripleo.2007.08.017. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008. PMID: 18230376 Review.
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Among authors: van haeringen a, van hagen jm. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
82 results