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Publications by Sonia Segovia
Distribution and Genotype-Phenotype Correlation of GDAP1 Mutations in Spain
Scientific Reports
Multidisciplinary
Correction To: Eight Years After an International Workshop on Myotonic Dystrophy Patient Registries: Case Study of a Global Collaboration for a Rare Disease
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
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Point Mutations in Ferroportin Disease: Genotype/Phenotype Correlation
Repository of SMAD4 Mutations: Reference for Genotype/ Phenotype Correlation
Journal of Data Mining in Genomics & Proteomics
Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation
Molecular Syndromology
Genetics
PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity
American Journal of Human Genetics
Genetics
Genotype–Phenotype Correlation of MousePde6bMutations
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Genotype/Phenotype Correlation in Hereditary Spherocytosis
Haematologica
Hematology
Correlation Between Genotype and Phenotype in Adult Primary Open Angle Glaucoma and Mutations in Myoc Gene
Open Journal of Chemistry
Identification and Characterization of Two Novel JARID1C Mutations: Suggestion of an Emerging Genotype-Phenotype Correlation
European Journal of Human Genetics
Genetics
Genotype–phenotype Correlation in Inherited Brain Myelination Defects Due to Proteolipid Protein Gene Mutations
European Journal of Human Genetics
Genetics
