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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
Insurance agreement to facilitate genetic testing
Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder
Disruption to higher order processes in Friedreich ataxia
Genetics, Insurance and Professional Practice: Survey of the Australasian Clinical Genetics Workforce
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype
False Negative Carrier Screening in Spinal Muscular Atrophy
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
