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Roberta Zuntini

Showing results (31-40 of 47) with videos related to

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American Journal of Medical Genetics. Part A|September 5, 2024
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literatureChiara Brugnoli, Susanna Rizzi, Carlo Alberto Cesaroni, et al.
Journal of Clinical Medicine|January 10, 2026
Feeding-Triggered Seizures in a Newborn with <i>AP1S1</i>-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare DiseaseAnna Cavalli, Francesca Peluso, Daniele Frattini, et al.
Oncotarget|February 11, 2017
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotypeRoberta Zuntini, Laura Cortesi, Daniele Calistri, et al.
Frontiers in Neurology|July 31, 2023
Case report: Expanding the phenotype of <i>FOXP1</i>-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizuresCarlo Alberto Cesaroni, Marzia Pollazzon, Cecilia Mancini, et al.
Human Mutation|December 17, 2008
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cellsGiuseppe Gasparre, Luisa Iommarini, Anna Maria Porcelli, et al.
Cancers|March 11, 2023
Characterization of BRCA Deficiency in Ovarian CancerGiovanna Barbero, Roberta Zuntini, Pamela Magini, et al.
Frontiers in Genetics|August 28, 2023
Case Report: Sequential postzygotic <i>HRAS</i> mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving <i>HRAS</i> in oncogenic transformationRoberta Zuntini, Chiara Cattani, Lucia Pedace, et al.
Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Genes|July 2, 2021
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous CouplesFrancesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, et al.
Italian Journal of Pediatrics|December 24, 2025
3-M syndrome: evolution of the phenotype over timeIsabelle Bacchi, Sara Vandelli, Emanuele Coccia, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|September 5, 2024
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literatureChiara Brugnoli, Susanna Rizzi, Carlo Alberto Cesaroni, et al.
Journal of Clinical Medicine|January 10, 2026
Feeding-Triggered Seizures in a Newborn with <i>AP1S1</i>-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare DiseaseAnna Cavalli, Francesca Peluso, Daniele Frattini, et al.
Oncotarget|February 11, 2017
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotypeRoberta Zuntini, Laura Cortesi, Daniele Calistri, et al.
Frontiers in Neurology|July 31, 2023
Case report: Expanding the phenotype of <i>FOXP1</i>-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizuresCarlo Alberto Cesaroni, Marzia Pollazzon, Cecilia Mancini, et al.
Human Mutation|December 17, 2008
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cellsGiuseppe Gasparre, Luisa Iommarini, Anna Maria Porcelli, et al.
Cancers|March 11, 2023
Characterization of BRCA Deficiency in Ovarian CancerGiovanna Barbero, Roberta Zuntini, Pamela Magini, et al.
Frontiers in Genetics|August 28, 2023
Case Report: Sequential postzygotic <i>HRAS</i> mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving <i>HRAS</i> in oncogenic transformationRoberta Zuntini, Chiara Cattani, Lucia Pedace, et al.
Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Genes|July 2, 2021
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous CouplesFrancesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, et al.
Italian Journal of Pediatrics|December 24, 2025
3-M syndrome: evolution of the phenotype over timeIsabelle Bacchi, Sara Vandelli, Emanuele Coccia, et al.
Pageof 5