Publications by authors named "Giulia Severi"

Claim this Profile
C
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli, Rosangela Artuso, Giulia Severi

Clin Genet· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.
Carlotta Pia Cristalli, Sara Calabrese, Luca Caramanna, Andrea Pietra, Giulia Vitetta, Giulia Severi

Genes (Basel)· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.
Arkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, Mervyn G Thomas, Tahir N Khan, Giulia Severi

Ann Neurol· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Familial DMRT1-related non-obstructive azoospermia: a case report.
Giulia Severi, Enrico Ambrosini, Luca Caramanna, Luigi Monti, Pamela Magini

J Assist Reprod Genet· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Giulia Severi

NPJ Genom Med· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in Gene.
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo

Genes (Basel)· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.
Chiara Diquigiovanni, Nicola Rizzardi, Antje Kampmeier, Irene Liparulo, Francesca Bianco, Giulia Severi

Open Biol· July 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
New clinical features in an adult patient with Skraban-Deardorff syndrome.
Giovanni Innella, Emanuela Scarano, Pietro Palumbo, Massimo Carella, Giulia Severi

Am J Med Genet A· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Nataliya Di Donato, Renzo Guerrini, Charles J Billington, A James Barkovich, Philine Dinkel, Giulia Severi

Brain· September 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
structural variants disrupting transcriptional regulation lead to craniofacial and limb malformations.
Naama Hirsch, Idit Dahan, Eva D'haene, Matan Avni, Sarah Vergult, Giulia Severi

Genome Res· July 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.
Anna Morgan, Flavio Faletra, Giulia Severi, Martina La Bianca, Laura Licchetta

Biomedicines· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder.
Claudio Graziano, Patrick Despang, Flavia Palombo, Giulia Severi, Annio Posar

J Autism Dev Disord· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene.
Vincenzo Mastrangelo, Raffaella Minardi, Maria Chiara Baroni, Giulia Severi, Enrico Ambrosini

Seizure· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Flavia Palombo, Claudio Graziano, Nadia Al Wardy, Nayereh Nouri, Caterina Marconi, Giulia Severi

Hum Genet· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Raffaella Minardi, Laura Licchetta, Maria Chiara Baroni, Tommaso Pippucci, Carlotta Stipa, Giulia Severi

Clin Genet· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.
Giulia Severi, Elena Bonora, Annamaria Perri, Emanuela Scarano, Laura Mazzanti

Cytogenet Genome Res· May 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel Mutations and Unreported Clinical Features in KBG Syndrome.
Emanuela Scarano, Martina Tassone, Claudio Graziano, Dino Gibertoni, Federica Tamburrino, Giulia Severi

Mol Syndromol· May 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature.
Claudio Graziano, Elena Gusson, Giulia Severi, Federica Isidori, Anita Wischmeijer

Ophthalmic Genet· December 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.
Giulia Severi, Laura Bernardini, Silvana Briuglia, Stefania Bigoni, Barbara Buldrini

Am J Med Genet A· January 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis