Publications by authors named "Francesca Inzana"

Claim this Profile
D
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Marcello Niceta, Simone Pizzi, Francesca Inzana, Angela Peron, Somayeh Bakhtiari

Clin Genet· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Response to Hall et al.
Jessica X Chong, Jared C Talbot, Emily M Teets, Samantha Previs, Brit L Martin, Francesca Inzana

Am J Hum Genet· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Jessica X Chong, Jared C Talbot, Emily M Teets, Samantha Previs, Brit L Martin, Francesca Inzana

Am J Hum Genet· August 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
"
"Spot diagnosis" or "spot the diagnosis"?
Francesco Benedicenti, Franco Stanzial, Anita Wischmeijer, Francesca Inzana

J Neurol Sci· August 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.
Elena Nicchia, Francesco Benedicenti, Daniela De Rocco, Chiara Greco, Roberta Bottega, Francesca Inzana

Birth Defects Res A Clin Mol Teratol· December 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Susanne Kohl, Ditta Zobor, Wei-Chieh Chiang, Nicole Weisschuh, Jennifer Staller, Francesca Inzana

Nat Genet· July 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
Francesca Novara, Franco Stanzial, Elena Rossi, Francesco Benedicenti, Francesca Inzana

Am J Med Genet A· August 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Michael Krieger, Andreas Roos, Claudia Stendel, Kristl G Claeys, Fatma Mujgan Sonmez, Francesca Inzana

Brain· December 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.
Antonio Pizzuti, Irene Bottillo, Francesca Inzana, Valentina Lanari, Francesca Buttarelli

Neurogenetics· August 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis