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Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences
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- Journal Article
- A1
- open access
Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
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- Journal Article
- A1
- open access
High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation
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SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints
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Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions
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Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association (vol 69, pg 7393, 2009)
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Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association