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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes : a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
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- Journal Article
- A1
- open access
Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies
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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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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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Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type I-associated glomus tumors
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Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome
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Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association
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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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Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1
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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis-1 like phenotype