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Claudia Ciaccio

Showing results (1-10 of 36) with videos related to

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Cytogenetic and Genome Research|November 17, 2016
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature ReviewClaudia Ciaccio, Chiara Dordoni, Marco Ritelli, et al.
Molecular Cytogenetics|November 9, 2016
<i>MIR137</i> is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletionsArianna Tucci, Claudia Ciaccio, Giulietta Scuvera, et al.
Cerebellum (London, England)|May 31, 2020
Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are PresentClaudia Ciaccio, Chiara Pantaleoni, Sara Bulgheroni, et al.
Italian Journal of Pediatrics|April 20, 2017
Fragile X syndrome: a review of clinical and molecular diagnosesClaudia Ciaccio, Laura Fontana, Donatella Milani, et al.
Molecular Genetics & Genomic Medicine|December 4, 2020
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxaValeria Cinquina, Claudia Ciaccio, Marina Venturini, et al.
European Journal of Medical Genetics|December 24, 2016
16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineationClaudia Ciaccio, Arianna Tucci, Giulietta Scuvera, et al.
American Journal of Medical Genetics. Part A|May 6, 2016
Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature reviewChiara Dordoni, Claudia Ciaccio, Marina Venturini, et al.
Frontiers in Neurology|August 7, 2023
Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmusSara Hafdaoui, Claudia Ciaccio, Barbara Castellotti, et al.
American Journal of Medical Genetics. Part A|September 13, 2016
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature reviewChiara Dordoni, Claudia Ciaccio, Graziano Santoro, et al.
Frontiers in Genetics|June 2, 2020
Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving <i>BCL2L10</i>, <i>GNB5</i>, and <i>MYO5C</i> Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA)Francesca L Sciacca, Claudia Ciaccio, Federica Fontana, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
Cytogenetic and Genome Research|November 17, 2016
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature ReviewClaudia Ciaccio, Chiara Dordoni, Marco Ritelli, et al.
Molecular Cytogenetics|November 9, 2016
<i>MIR137</i> is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletionsArianna Tucci, Claudia Ciaccio, Giulietta Scuvera, et al.
Cerebellum (London, England)|May 31, 2020
Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are PresentClaudia Ciaccio, Chiara Pantaleoni, Sara Bulgheroni, et al.
Italian Journal of Pediatrics|April 20, 2017
Fragile X syndrome: a review of clinical and molecular diagnosesClaudia Ciaccio, Laura Fontana, Donatella Milani, et al.
Molecular Genetics & Genomic Medicine|December 4, 2020
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxaValeria Cinquina, Claudia Ciaccio, Marina Venturini, et al.
European Journal of Medical Genetics|December 24, 2016
16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineationClaudia Ciaccio, Arianna Tucci, Giulietta Scuvera, et al.
American Journal of Medical Genetics. Part A|May 6, 2016
Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature reviewChiara Dordoni, Claudia Ciaccio, Marina Venturini, et al.
Frontiers in Neurology|August 7, 2023
Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmusSara Hafdaoui, Claudia Ciaccio, Barbara Castellotti, et al.
American Journal of Medical Genetics. Part A|September 13, 2016
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature reviewChiara Dordoni, Claudia Ciaccio, Graziano Santoro, et al.
Frontiers in Genetics|June 2, 2020
Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving <i>BCL2L10</i>, <i>GNB5</i>, and <i>MYO5C</i> Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA)Francesca L Sciacca, Claudia Ciaccio, Federica Fontana, et al.
Pageof 4