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Publications by J-P Fryns

Genotype-Phenotype Correlation in 21 Patients With Wolf-Hirschhorn Syndrome Using High Resolution Array Comparative Genome Hybridisation (CGH)

Journal of Medical Genetics

English

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Comprehensive Analysis of Wolf–Hirschhorn Syndrome Using Array CGH Indicates a High Prevalence of Translocations

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Genotype‐phenotype Correlation and Prognostic Impact in Chinese Patients With Alport Syndrome

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High Resolution Profiling of X Chromosomal Aberrations by Array Comparative Genomic Hybridisation

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De Novo Truncating Variant in NSD2gene Leading to Atypical Wolf-Hirschhorn Syndrome Phenotype

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Phenotype?genotype Correlation in Two Patients With 12q Proximal Deletion

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Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

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Genotype–Phenotype Correlation in Chinese Patients With Dystrophic Epidermolysis Bullosa Pruriginosa

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