Concepedia

Aldamaria Puliti

AP

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Publications

41

Citations

2.7K

H-Index

23

Active since

1992

Affiliations

Istituto Giannina Gaslini(Current)

University of Genoa

Istituti di Ricovero e Cura a Carattere Scientifico

University of Pisa

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Aldamaria Puliti is an author at Istituto Giannina Gaslini specializing in medicine, genetics, and neuroscience.

ORCID

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Publications per year

1992–2021

41

Publications

41

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Véronique Pingault, Nadège Bondurand, Kirsten Kuhlbrodt et al. · Nature Genetics · 1998 · 817 citations

, , +7

Mutation of the Sry-related <i>Sox10</i> gene in <i>Dominant megacolon</i> , a mouse model for human Hirschsprung disease

Beate Herbarth, Véronique Pingault, Nadège Bondurand et al. · Proceedings of the National Academy of Sciences · 1998 · 356 citations · Full text

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

, , +11

Nuclear Run-On Assay Using Biotin Labeling, Magnetic Bead Capture and Analysis by Fluorescence-Based RT-PCR

Giovanna Patrone, Francesca Puppo, Roberto Cusano et al. · BioTechniques · 2000 · 114 citations · Full text

Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10

Giuseppe Martucciello, Maria Patrizia Bicocchi, P Dodero et al. · Pediatric Surgery International · 1992 · 84 citations

, , +3

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