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Isabella Ceccherini

Showing results (31-40 of 180) with videos related to

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Journal of Cellular Physiology|April 30, 2014
Expression variability and function of the RET gene in adult peripheral blood mononuclear cellsMarta Rusmini, Paola Griseri, Ivana Matera, et al.
Human Mutation|January 12, 2005
A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expressionPaola Griseri, Tiziana Bachetti, Francesca Puppo, et al.
Pediatric Pulmonology|March 6, 2013
Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicismTiziana Bachetti, Marco Di Duca, Matteo Della Monica, et al.
Journal of Forensic and Legal Medicine|April 22, 2018
Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B geneFrancesco Ventura, Rosario Barranco, Tiziana Bachetti, et al.
European Journal of Human Genetics : EJHG|April 26, 2002
Hirschsprung associated GDNF mutations do not prevent RET activationSilvia Borghini, Renata Bocciardi, Giulia Bonardi, et al.
The International Journal of Biochemistry & Cell Biology|October 19, 2006
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansionsTiziana Bachetti, Paola Bocca, Silvia Borghini, et al.
Neuropediatrics|December 21, 2012
Magnetic resonance imaging "tigroid pattern" in Alexander diseaseRoberta Biancheri, Andrea Rossi, Isabella Ceccherini, et al.
Pediatrics|February 18, 2021
Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive DiseaseGiovanni Del Borrello, Daniela Guardo, Concetta Micalizzi, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|March 16, 2011
The ocular motor features of adult-onset alexander disease: a case and review of the literatureGerald Pfeffer, Mathias Abegg, A Talia Vertinsky, et al.
American Journal of Medical Genetics. Part A|June 9, 2016
Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutationValentina Rossi, Manuela Mosconi, Paolo Nozza, et al.
Pageof 18

Showing results (31-40 of 180) with videos related to

Sort By:
Pageof 18
Journal of Cellular Physiology|April 30, 2014
Expression variability and function of the RET gene in adult peripheral blood mononuclear cellsMarta Rusmini, Paola Griseri, Ivana Matera, et al.
Human Mutation|January 12, 2005
A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expressionPaola Griseri, Tiziana Bachetti, Francesca Puppo, et al.
Pediatric Pulmonology|March 6, 2013
Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicismTiziana Bachetti, Marco Di Duca, Matteo Della Monica, et al.
Journal of Forensic and Legal Medicine|April 22, 2018
Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B geneFrancesco Ventura, Rosario Barranco, Tiziana Bachetti, et al.
European Journal of Human Genetics : EJHG|April 26, 2002
Hirschsprung associated GDNF mutations do not prevent RET activationSilvia Borghini, Renata Bocciardi, Giulia Bonardi, et al.
The International Journal of Biochemistry & Cell Biology|October 19, 2006
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansionsTiziana Bachetti, Paola Bocca, Silvia Borghini, et al.
Neuropediatrics|December 21, 2012
Magnetic resonance imaging "tigroid pattern" in Alexander diseaseRoberta Biancheri, Andrea Rossi, Isabella Ceccherini, et al.
Pediatrics|February 18, 2021
Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive DiseaseGiovanni Del Borrello, Daniela Guardo, Concetta Micalizzi, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|March 16, 2011
The ocular motor features of adult-onset alexander disease: a case and review of the literatureGerald Pfeffer, Mathias Abegg, A Talia Vertinsky, et al.
American Journal of Medical Genetics. Part A|June 9, 2016
Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutationValentina Rossi, Manuela Mosconi, Paolo Nozza, et al.
Pageof 18