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Publications by G. R Mortier
Report of Five Novel and One Recurrent COL2A1 Mutations With Analysis of Genotype-Phenotype Correlation in Patients With a Lethal Type II Collagen Disorder
Journal of Medical Genetics
Genetics
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Novel Genotype-Phenotype and MRI Correlations in a Large Cohort of Patients With SPG7 Mutations
Neurology: Genetics
Neurology
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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
Expanding the Phenotype of DST‐related Disorder: A Case Report Suggesting a Genotype/Phenotype Correlation
American Journal of Medical Genetics, Part A
Genetics
Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis
Frontiers in Genetics
Genetics
Molecular Medicine
Distribution and Genotype-Phenotype Correlation of GDAP1 Mutations in Spain
Scientific Reports
Multidisciplinary
Point Mutations in Ferroportin Disease: Genotype/Phenotype Correlation
Phenotype?genotype Correlation in Two Patients With 12q Proximal Deletion
Journal of Human Genetics
Genetics
APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation
Genes
Genetics
Identification and Characterization of Two Novel JARID1C Mutations: Suggestion of an Emerging Genotype-Phenotype Correlation
European Journal of Human Genetics
Genetics
