PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Human Mutation10.1002/humu.138004020219944283-101Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 geneM. Upadhyaya, D. J. Shaw, P. S. Harperhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.1380040202
Human Mutation10.1002/humu.2266920153611v-vNeurofibromatosis Type 1 Without Neurofibromas: Genotype-Phenotype Correlations in NF1Hildegard Kehrer-Sawatzkihttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.22669
The Korean Journal of Internal Medicine10.3904/kjim.2015.2562018331214-217A novel neurofibromatosis type 1 (NF1) mutation in a patient with NF1 and pheochromocytomaYoorim Seo, Yeonjeong Jeong, Dong Yoon Kim, Kyueun Choi, Eun Sook Kim, Sung Dae Moon, Je Ho Hanhttp://kjim.org/upload/kjim-2015-256.pdf, http://kjim.org/journal/view.php?doi=10.3904/kjim.2015.256, http://kjim.org/upload/kjim-2015-256.pdf
Encyclopedia of Clinical Neuropsychology10.1007/978-3-319-56782-2_133-220171-3Neurofibromatosis Type 1 (NF1)Carol L. Armstronghttp://link.springer.com/content/pdf/10.1007/978-3-319-56782-2_133-2
Human Mutation10.1002/(sici)1098-1004(1999)13:3<258::aid-humu17>3.0.co;2-11999133258-258Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): Five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patientsHartmut Peters, Andrea L�der, Anja Harder, Markus Schuelke, Sigrid Tinscherthttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1098-1004(1999)13:3%3C258::AID-HUMU17%3E3.0.CO;2-1
Human Mutation10.1002/(sici)1098-1004(1996)7:2<172::aid-humu15>3.3.co;2-a199672172-175Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) geneG. Perrin, M.A. Morris, S.E. Antonarakis, E. Boltshauser, P. Hutterhttp://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1098-1004(1996)7:2%3C172::AID-HUMU15%3E3.3.CO;2-A
Human Mutation10.1002/(sici)1098-1004(1997)10:3<248::aid-humu14>3.3.co;2-d1997103248-250Six novel mutations in the neurofibromatosis type 1 (NF1) geneM. Upadhyaya, J. Maynard, M. Osborn, P.S. Harperhttp://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1098-1004(1997)10:3%3C248::AID-HUMU14%3E3.3.CO;2-D
Human Mutation10.1002/(sici)1098-1004(1999)13:3<259::aid-humu19>3.0.co;2-t1999133259-259A novel 5-bp deletion in exon 30 of the neurofibromatosis type 1 (NF1) geneAnja Harder, Carmen Macsuga, Sigrid Tinschert, Peter N�rnberg, Hartmut Petershttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1098-1004(1999)13:3%3C259::AID-HUMU19%3E3.0.CO;2-T
Human Mutation10.1002/humu.12412001186549-550Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 (NF1) geneLi Juan Fang, Dominique Vidaud, Michel Vidaud, Jean-Paul Thirionhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.1241
Human Mutation10.1002/(sici)1098-1004(1996)7:2<172::aid-humu15>3.0.co;2-#199672172-175Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) geneG. Perrin, M.A. Morris, S.E. Antonarakis, E. Boltshauser, P. Hutterhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1098-1004(1996)7:2%3C172::AID-HUMU15%3E3.0.CO;2-#