Publications by authors named "S Bigoni"

Claim this Profile
C
Characterization of a novel mutation in a family with thrombocytopenia and other congenital malformations.
Daniele Ammeti, Serena Barozzi, Alessandro Pecci, Melania Eva Zanchetta, Edward Cesnik, Stefania Bigoni

Haematologica· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping.
Martina Mietto, Silvia Montanari, Maria Sofia Falzarano, Elisa Manzati, Paola Rimessi, Stefania Bigoni

Biomolecules· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Maria Cristina Aspromonte, Alessio Del Conte, Roberta Polli, Demetrio Baldo, Francesco Benedicenti, Stefania Bigoni

Hum Genet· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.
Simone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, Giacomo Bacci, Giorgia Panichella, Stefania Bigoni

Am J Med Genet C Semin Med Genet· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.
L Tonelli, M Sanchini, A Margutti, B Buldrini, A Superti-Furga, S Bigoni

Eur J Med Genet· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis