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Maria Piccione

Showing results (31-40 of 74) with videos related to

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Journal of Applied Genetics|May 1, 2012
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array-CGHChiara Donatella Viaggi, Simona Cavani, Mauro Pierluigi, et al.
American Journal of Medical Genetics. Part A|February 13, 2009
A premature infant with Costello syndrome due to a rare G13C HRAS mutationMaria Piccione, Ettore Piro, Maria Grazia Pomponi, et al.
European Journal of Medical Genetics|March 13, 2012
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlationMaria Piccione, Ettore Piro, Francesca Serraino, et al.
Molecular Genetics & Genomic Medicine|September 18, 2020
A novel GABRB3 variant in Dravet syndrome: Case report and literature reviewPiero Pavone, Xena Giada Pappalardo, Simona D Marino, et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology|January 10, 2022
Very early prenatal diagnosis of Cockayne's syndrome by coelocentesisAntonino Giambona, Margherita Vinciguerra, Filippo Leto, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesisMaria Piccione, R Antona, E Salzano, et al.
Cureus|August 14, 2025
Development and Validation of a Practical Tool for Assessing Acute Pain in the Pediatric Population With Down Syndrome (ANDREAS): A Study ProtocolRoberto Latina, Rosaria Gambino, Domenica Matranga, et al.
Italian Journal of Pediatrics|July 21, 2017
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case seriesMartina Busè, Helenia C Cuttaia, Daniela Palazzo, et al.
American Journal of Medical Genetics. Part A|May 15, 2012
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephalyMaria Piccione, Gregorio Serra, Valeria Consiglio, et al.
Frontiers in Neurology|February 24, 2023
Case report: Novel compound heterozygosity for pathogenic variants in <i>MED23</i> in a syndromic patient with postnatal microcephalyEmanuela Salzano, Marcello Niceta, Simone Pizzi, et al.
Pageof 8

Showing results (31-40 of 74) with videos related to

Sort By:
Pageof 8
Journal of Applied Genetics|May 1, 2012
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array-CGHChiara Donatella Viaggi, Simona Cavani, Mauro Pierluigi, et al.
American Journal of Medical Genetics. Part A|February 13, 2009
A premature infant with Costello syndrome due to a rare G13C HRAS mutationMaria Piccione, Ettore Piro, Maria Grazia Pomponi, et al.
European Journal of Medical Genetics|March 13, 2012
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlationMaria Piccione, Ettore Piro, Francesca Serraino, et al.
Molecular Genetics & Genomic Medicine|September 18, 2020
A novel GABRB3 variant in Dravet syndrome: Case report and literature reviewPiero Pavone, Xena Giada Pappalardo, Simona D Marino, et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology|January 10, 2022
Very early prenatal diagnosis of Cockayne's syndrome by coelocentesisAntonino Giambona, Margherita Vinciguerra, Filippo Leto, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesisMaria Piccione, R Antona, E Salzano, et al.
Cureus|August 14, 2025
Development and Validation of a Practical Tool for Assessing Acute Pain in the Pediatric Population With Down Syndrome (ANDREAS): A Study ProtocolRoberto Latina, Rosaria Gambino, Domenica Matranga, et al.
Italian Journal of Pediatrics|July 21, 2017
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case seriesMartina Busè, Helenia C Cuttaia, Daniela Palazzo, et al.
American Journal of Medical Genetics. Part A|May 15, 2012
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephalyMaria Piccione, Gregorio Serra, Valeria Consiglio, et al.
Frontiers in Neurology|February 24, 2023
Case report: Novel compound heterozygosity for pathogenic variants in <i>MED23</i> in a syndromic patient with postnatal microcephalyEmanuela Salzano, Marcello Niceta, Simone Pizzi, et al.
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