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Publications by Pilar Carbonell

Distribution and Genotype-Phenotype Correlation of GDAP1 Mutations in Spain

Scientific Reports

Multidisciplinary

English

Technology Newness and Impact of Go/No-Go Criteria on New Product Success

Marketing Letters

International Management

English

Related publications

Point Mutations in Ferroportin Disease: Genotype/Phenotype Correlation

English

Repository of SMAD4 Mutations: Reference for Genotype/ Phenotype Correlation

Journal of Data Mining in Genomics & Proteomics

English

Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

Molecular Syndromology

English

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

American Journal of Human Genetics

English

Genotype–Phenotype Correlation of MousePde6bMutations

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Genotype/Phenotype Correlation in Hereditary Spherocytosis

English

Correlation Between Genotype and Phenotype in Adult Primary Open Angle Glaucoma and Mutations in Myoc Gene

Open Journal of Chemistry

English

Identification and Characterization of Two Novel JARID1C Mutations: Suggestion of an Emerging Genotype-Phenotype Correlation

European Journal of Human Genetics

English

Genotype–phenotype Correlation in Inherited Brain Myelination Defects Due to Proteolipid Protein Gene Mutations

European Journal of Human Genetics

English