Giuseppe Martucciello

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

Giovanni Romeo, Patrizia Ronchetto, Yin Luo et al. · Nature · 1994 · 702 citations

Somatic Variant, Point Mutations, Mendelian Disorder +10

Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations

A. M. Holschneider, John M. Hutson, Albert Peña et al. · Journal of Pediatric Surgery · 2005 · 625 citations

Preliminary Report, Oral Medicine, Surgery +5

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

Stanislas Lyonnet, Alessandra Bolino, Anna Pelet et al. · Nature Genetics · 1993 · 192 citations

Chromatin, Developmental Biology, Cytogenetics +11

Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: A report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies

Giuseppe Martucciello, Alessio Pini Prato, Prem Puri et al. · Journal of Pediatric Surgery · 2005 · 188 citations · Full text

Creutzfeldt-jakob Disease, Enteric Nervous System, Neuroanatomy +11

Frequency of RET mutations in long- and short-segment Hirschsprung disease

Marco Seri, Yin Luo, Virginia Barone et al. · Human Mutation · 1997 · 137 citations