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Simonetta Rosato

Showing results (21-30 of 29) with videos related to

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Genes|August 26, 2023
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <i>DLX5/6</i> GenesIrene Ambrosetti, Laura Bernardini, Marzia Pollazzon, et al.
Molecular Syndromology|December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature ReviewIlenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.
Genes|January 21, 2022
Clinical and Genetic Findings in a Series of Eight Families with ArthrogryposisMarzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, et al.
Italian Journal of Pediatrics|December 18, 2014
Multiple sulfatase deficiency with neonatal manifestationLivia Garavelli, Lucia Santoro, Alexandra Iori, 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.
American Journal of Medical Genetics. Part A|April 8, 2015
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastomaLivia Garavelli, Viviana Cordeddu, Stefania Errico, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomaliesSara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
American Journal of Medical Genetics. Part A|January 17, 2013
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotypeDuccio Maria Cordelli, Livia Garavelli, Salvatore Savasta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for careIvan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, et al.
Pageof 3

Showing results (21-30 of 29) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 29 results.
Genes|August 26, 2023
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <i>DLX5/6</i> GenesIrene Ambrosetti, Laura Bernardini, Marzia Pollazzon, et al.
Molecular Syndromology|December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature ReviewIlenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.
Genes|January 21, 2022
Clinical and Genetic Findings in a Series of Eight Families with ArthrogryposisMarzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, et al.
Italian Journal of Pediatrics|December 18, 2014
Multiple sulfatase deficiency with neonatal manifestationLivia Garavelli, Lucia Santoro, Alexandra Iori, 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.
American Journal of Medical Genetics. Part A|April 8, 2015
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastomaLivia Garavelli, Viviana Cordeddu, Stefania Errico, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomaliesSara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
American Journal of Medical Genetics. Part A|January 17, 2013
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotypeDuccio Maria Cordelli, Livia Garavelli, Salvatore Savasta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for careIvan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, et al.
Pageof 3