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75 results
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The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.
Baser ME, Kuramoto L, Woods R, Joe H, Friedman JM, Wallace AJ, Ramsden RT, Olschwang S, Bijlsma E, Kalamarides M, Papi L, Kato R, Carroll J, Lázaro C, Joncourt F, Parry DM, Rouleau GA, Evans DG. Baser ME, et al. Among authors: joe h. J Med Genet. 2005 Jul;42(7):540-6. doi: 10.1136/jmg.2004.029504. J Med Genet. 2005. PMID: 15994874 Free PMC article. Review.
Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients.
Hexter A, Jones A, Joe H, Heap L, Smith MJ, Wallace AJ, Halliday D, Parry A, Taylor A, Raymond L, Shaw A, Afridi S, Obholzer R, Axon P, King AT; English Specialist NF2 Research Group, Friedman JM, Evans DG. Hexter A, et al. Among authors: joe h. J Med Genet. 2015 Oct;52(10):699-705. doi: 10.1136/jmedgenet-2015-103290. Epub 2015 Aug 14. J Med Genet. 2015. PMID: 26275417
Predictors of the risk of mortality in neurofibromatosis 2.
Baser ME, Friedman JM, Aeschliman D, Joe H, Wallace AJ, Ramsden RT, Evans DG. Baser ME, et al. Among authors: joe h. Am J Hum Genet. 2002 Oct;71(4):715-23. doi: 10.1086/342716. Epub 2002 Aug 22. Am J Hum Genet. 2002. PMID: 12235555 Free PMC article.
Genotype-phenotype correlations for cataracts in neurofibromatosis 2.
Baser ME, Kuramoto L, Joe H, Friedman JM, Wallace AJ, Ramsden RT, Evans DG. Baser ME, et al. Among authors: joe h. J Med Genet. 2003 Oct;40(10):758-60. doi: 10.1136/jmg.40.10.758. J Med Genet. 2003. PMID: 14569124 Free PMC article. No abstract available.
Associations of osseous abnormalities in Neurofibromatosis 1.
Alwan S, Armstrong L, Joe H, Birch PH, Szudek J, Friedman JM. Alwan S, et al. Among authors: joe h. Am J Med Genet A. 2007 Jun 15;143A(12):1326-33. doi: 10.1002/ajmg.a.31754. Am J Med Genet A. 2007. PMID: 17506102
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