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Publications by Jo Martindale
Novel Genotype-Phenotype and MRI Correlations in a Large Cohort of Patients With SPG7 Mutations
Neurology: Genetics
Neurology
Genetics
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Genotype-Phenotype Correlations in PCD Patients Carrying DNAH5 Mutations
Thorax
Pulmonary
Respiratory Medicine
Genotype–phenotype Correlations in Ataxia Telangiectasia Patients With ATM C.3576G>A and C.8147T>C Mutations
Journal of Medical Genetics
Genetics
Fabry Disease: Twenty Novel Α-Galactosidase a Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes
Molecular Medicine
Molecular Medicine
Genetics
Molecular Biology
Epidermolysis Bullosa With Congenital Pyloric Atresia: Novel Mutations in the Β4 Integrin Gene (ITGB4) and Genotype/Phenotype Correlations
Pediatric Research
Child Health
Pediatrics
Perinatology
Genotype-Phenotype Relationships in a Cohort
European Respiratory Journal
Medicine
Pulmonary
Respiratory Medicine
Phenotype/Genotype Correlation in a Case Series of Stargardt’s Patients Identifies Novel Mutations in the ABCA4 Gene
Eye
Medicine
Arts
Sensory Systems
Ophthalmology
Humanities
A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations
Journal of Developmental and Behavioral Pediatrics
Developmental
Mental Health
Child Health
Educational Psychology
Perinatology
Psychiatry
Pediatrics
Genetic Basis and Genotype–Phenotype Correlations in Han Chinese Patients With Idiopathic Dilated Cardiomyopathy
Scientific Reports
Multidisciplinary
TheFBN2gene: New Mutations, Locus-Specific Database (Universal Mutation DatabaseFBN2), and Genotype-Phenotype Correlations
Human Mutation
Genetics
