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Marta Romani

Showing results (11-20 of 24) with videos related to

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Cardiovascular Research|December 17, 2009
Role of HIF-1alpha in proton-mediated CXCR4 down-regulation in endothelial cellsRoberta Melchionna, Marta Romani, Valeria Ambrosino, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 18, 2012
Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patientsVinko Palada, Sandra Stiern, Nicola Glöckle, et al.
American Journal of Medical Genetics. Part A|August 18, 2016
Cognitive, adaptive, and behavioral features in Joubert syndromeSara Bulgheroni, Stefano D'Arrigo, Sabrina Signorini, et al.
Orphanet Journal of Rare Diseases|June 3, 2014
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndromeMarta Romani, Alessia Micalizzi, Ichraf Kraoua, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 8, 2018
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndromeSara Nuovo, Laura Fuiano, Alessia Micalizzi, et al.
Plos Biology|March 17, 2016
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition ZoneChunmei Li, Victor L Jensen, Kwangjin Park, et al.
American Journal of Human Genetics|June 16, 2015
Loss-of-Function Mutations in APPL1 in Familial Diabetes MellitusSabrina Prudente, Prapaporn Jungtrakoon, Antonella Marucci, et al.
Neurology. Genetics|March 31, 2017
<i>GNAO1</i> encephalopathy: Broadening the phenotype and evaluating treatment and outcomeFederica Rachele Danti, Serena Galosi, Marta Romani, et al.
Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.
European Journal of Human Genetics : EJHG|March 3, 2016
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)Alessia Micalizzi, Andrea Poretti, Marta Romani, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Cardiovascular Research|December 17, 2009
Role of HIF-1alpha in proton-mediated CXCR4 down-regulation in endothelial cellsRoberta Melchionna, Marta Romani, Valeria Ambrosino, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 18, 2012
Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patientsVinko Palada, Sandra Stiern, Nicola Glöckle, et al.
American Journal of Medical Genetics. Part A|August 18, 2016
Cognitive, adaptive, and behavioral features in Joubert syndromeSara Bulgheroni, Stefano D'Arrigo, Sabrina Signorini, et al.
Orphanet Journal of Rare Diseases|June 3, 2014
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndromeMarta Romani, Alessia Micalizzi, Ichraf Kraoua, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 8, 2018
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndromeSara Nuovo, Laura Fuiano, Alessia Micalizzi, et al.
Plos Biology|March 17, 2016
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition ZoneChunmei Li, Victor L Jensen, Kwangjin Park, et al.
American Journal of Human Genetics|June 16, 2015
Loss-of-Function Mutations in APPL1 in Familial Diabetes MellitusSabrina Prudente, Prapaporn Jungtrakoon, Antonella Marucci, et al.
Neurology. Genetics|March 31, 2017
<i>GNAO1</i> encephalopathy: Broadening the phenotype and evaluating treatment and outcomeFederica Rachele Danti, Serena Galosi, Marta Romani, et al.
Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.
European Journal of Human Genetics : EJHG|March 3, 2016
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)Alessia Micalizzi, Andrea Poretti, Marta Romani, et al.
Pageof 3