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Publications by Fuad Dheni Musthofa

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

Annals of Translational Medicine

English

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

Journal of Pediatric Surgery

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

Journal of Medical Genetics

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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

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Contribution of RET, NTRK3 and EDN3 to the Expression of Hirschsprung Disease in a Multiplex Family

Journal of Medical Genetics

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Homozygosity for a Frequent and Weakly Penetrant Predisposing Allele at the RET Locus in Sporadic Hirschsprung Disease

Journal of Medical Genetics

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Hirschsprung Disease

English

AB053. NRG1 Rare Variant Effects in Hirschsprung Disease Patients

Annals of Translational Medicine

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Analysis of the RET, GDNF, EDN3, and EDNRB Genes in Patients With Intestinal Neuronal Dysplasia and Hirschsprung Disease

Gastroenterology

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Educational Case: Hirschsprung Disease

Academic Pathology

Forensic Medicine

English