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Publications by M. E. Portnoy

Phenotype-Genotype Correlation in Hirschsprung Disease Is Illuminated by Comparative Analysis of the RET Protein Sequence

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
2005English

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Point Mutations in Ferroportin Disease: Genotype/Phenotype Correlation

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AB097. Combined Effects of RET Transcriptional Enhancer Variants in Hirschsprung Disease

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Phenotype-Genotype Correlation of Haemoglobinopathy H Disease in Greece 31

Pediatric Research
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1997English

Genotype–Phenotype Correlation of MousePde6bMutations

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Exclusion of RET and Pax 3 Loci in Waardenburg-Hirschsprung Disease.

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1995English

Genotype/Phenotype Correlation in Hereditary Spherocytosis

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2008English

Effects of RET and NRG1 Polymorphisms in Indonesian Patients With Hirschsprung Disease

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Genotype-Phenotype Correlation in Hereditary Hearing Loss

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Genotype-Phenotype Correlation in L1 Associated Diseases.

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1998English

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