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Anna Cereda

Showing results (1-10 of 55) with videos related to

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Orphanet Journal of Rare Diseases|October 24, 2012
The trisomy 18 syndromeAnna Cereda, John C Carey
American Journal of Medical Genetics. Part A|September 20, 2012
A new report of Cornelia de Lange syndrome associated with split hand and feetChiara Barboni, Anna Cereda, Milena Mariani, et al.
The Journal of Pediatrics|June 5, 2019
Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation SequencingEmanuele Nicastro, Angelo Di Giorgio, Daniela Marchetti, et al.
European Journal of Medical Genetics|January 3, 2012
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotoniaLucia Ballarati, Anna Cereda, Rossella Caselli, et al.
American Journal of Medical Genetics. Part A|May 23, 2013
Two cases of hepatic adenomas in patients with Wolf-Hirschhorn syndrome: a new rare complication?Giulia Prunotto, Paola Cianci, Anna Cereda, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|August 20, 2009
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndromePaola Castronovo, Cristina Gervasini, Anna Cereda, et al.
Molecular Cytogenetics|April 4, 2015
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndromeMilena Crippa, Daniela Rusconi, Chiara Castronovo, et al.
Glycobiology|October 5, 2019
A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9Rossella Indellicato, Ruben Domenighini, Nadia Malagolini, et al.
American Journal of Medical Genetics. Part A|October 31, 2009
Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndromeGiovanna Olioso, Alice Passarini, Francesca Atzeri, et al.
European Journal of Medical Genetics|October 26, 2010
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literatureLucia Ballarati, Anna Cereda, Rossella Caselli, et al.
Pageof 6

Showing results (1-10 of 55) with videos related to

Sort By:
Pageof 6
Orphanet Journal of Rare Diseases|October 24, 2012
The trisomy 18 syndromeAnna Cereda, John C Carey
American Journal of Medical Genetics. Part A|September 20, 2012
A new report of Cornelia de Lange syndrome associated with split hand and feetChiara Barboni, Anna Cereda, Milena Mariani, et al.
The Journal of Pediatrics|June 5, 2019
Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation SequencingEmanuele Nicastro, Angelo Di Giorgio, Daniela Marchetti, et al.
European Journal of Medical Genetics|January 3, 2012
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotoniaLucia Ballarati, Anna Cereda, Rossella Caselli, et al.
American Journal of Medical Genetics. Part A|May 23, 2013
Two cases of hepatic adenomas in patients with Wolf-Hirschhorn syndrome: a new rare complication?Giulia Prunotto, Paola Cianci, Anna Cereda, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|August 20, 2009
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndromePaola Castronovo, Cristina Gervasini, Anna Cereda, et al.
Molecular Cytogenetics|April 4, 2015
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndromeMilena Crippa, Daniela Rusconi, Chiara Castronovo, et al.
Glycobiology|October 5, 2019
A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9Rossella Indellicato, Ruben Domenighini, Nadia Malagolini, et al.
American Journal of Medical Genetics. Part A|October 31, 2009
Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndromeGiovanna Olioso, Alice Passarini, Francesca Atzeri, et al.
European Journal of Medical Genetics|October 26, 2010
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literatureLucia Ballarati, Anna Cereda, Rossella Caselli, et al.
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