Published in Eur J Pediatr on July 01, 2000
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Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm. J Med Genet (1989) 0.80
Two single base polymorphisms in introns 41 and 16 of the NF1 gene. Am J Med Genet (1995) 0.80
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No evidence for uniparental disomy as a common cause of Sotos syndrome. J Med Genet (1997) 0.79
Identification of five novel SPRED1 germline mutations in Legius syndrome. Clin Genet (2011) 0.79
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A search for evidence of somatic mutations in the NF1 gene. J Med Genet (2000) 0.78
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Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype. Eur J Pediatr (2000) 0.78
A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene. Hum Genet (1993) 0.78
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