Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Andrew Crosby

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

American Journal of Human Genetics

English

Related publications

Genotype and Phenotype in Patients With Noonan Syndrome and a RIT1 Mutation

Genetics in Medicine

English

Point Mutations in Ferroportin Disease: Genotype/Phenotype Correlation

English

Distribution and Genotype-Phenotype Correlation of GDAP1 Mutations in Spain

Scientific Reports

Multidisciplinary

English

Molecular Basis for Phenotypic Heterogeneity in Galactosaemia: Prediction of Clinical Phenotype From Genotype in Japanese Patients

European Journal of Human Genetics

English

Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

American Journal of Human Genetics

English

Cancer Risk in Patients With Noonan Syndrome Carrying a PTPN11 Mutation

European Journal of Human Genetics

English

Genotype-Phenotype Correlation in Brazillian Rett Syndrome Patients

Arquivos de Neuro-Psiquiatria

Biological Psychiatry

English

Mutations inRIT1cause Noonan Syndrome - Additional Functional Evidence and Expanding the Clinical Phenotype

Clinical Genetics

English

Repository of SMAD4 Mutations: Reference for Genotype/ Phenotype Correlation

Journal of Data Mining in Genomics & Proteomics

English