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Livia Garavelli

Showing results (101-110 of 156) with videos related to

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International Journal of Molecular Sciences|January 27, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter StudyBenedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, et al.
Italian Journal of Pediatrics|December 18, 2014
Multiple sulfatase deficiency with neonatal manifestationLivia Garavelli, Lucia Santoro, Alexandra Iori, et al.
American Journal of Medical Genetics. Part A|April 5, 2013
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotypeAnita Wischmeijer, Lut Van Laer, Giada Tortora, 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.
Human Genetics|August 7, 2007
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16Marcella Zollino, Rosetta Lecce, Marina Murdolo, et al.
European Journal of Human Genetics : EJHG|August 22, 2013
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxaThatjana Gardeitchik, Miski Mohamed, Björn Fischer, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 10, 2010
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parentsMonica Marini, Renata Bocciardi, Stefania Gimelli, 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.
Pageof 16

Showing results (101-110 of 156) with videos related to

Sort By:
Pageof 16
International Journal of Molecular Sciences|January 27, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter StudyBenedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, et al.
Italian Journal of Pediatrics|December 18, 2014
Multiple sulfatase deficiency with neonatal manifestationLivia Garavelli, Lucia Santoro, Alexandra Iori, et al.
American Journal of Medical Genetics. Part A|April 5, 2013
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotypeAnita Wischmeijer, Lut Van Laer, Giada Tortora, 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.
Human Genetics|August 7, 2007
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16Marcella Zollino, Rosetta Lecce, Marina Murdolo, et al.
European Journal of Human Genetics : EJHG|August 22, 2013
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxaThatjana Gardeitchik, Miski Mohamed, Björn Fischer, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 10, 2010
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parentsMonica Marini, Renata Bocciardi, Stefania Gimelli, 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.
Pageof 16