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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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Deficient motor timing in children with neurofibromatosis type 1
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Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder
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Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions
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Voice-related quality of life in adults with neurofibromatosis type 1
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Voice characteristics in adults with neurofibromatosis type 1
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Objective assessment of nasality in Flemish adults with neurofibromatosis type 1
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Speech disorders in neurofibromatosis type 1: a sample survey
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Speech fluency in neurofibromatosis type 1
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Word-final prolongations in an adult male with neurofibromatosis type 1