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Andrea Poretti

Showing results (171-180 of 184) with videos related to

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Cerebellum (London, England)|April 25, 2012
Macrocerebellum: significance and pathogenic considerationsAndrea Poretti, Volker Mall, Martin Smitka, et al.
American Journal of Medical Genetics. Part A|May 13, 2017
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single centerAngela C Summers, Joseph Snow, Edythe Wiggs, et al.
Journal of Medical Genetics|January 15, 2017
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic causeAndrea Poretti, Joseph Snow, Angela C Summers, et al.
The New England Journal of Medicine|April 7, 2016
Computed Tomographic Findings in Microcephaly Associated with Zika VirusAdriano N Hazin, Andrea Poretti, Danielle Di Cavalcanti Souza Cruz, et al.
European Radiology|September 14, 2017
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.
European Radiology|July 6, 2017
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, 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.
Orphanet Journal of Rare Diseases|January 13, 2012
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VIAndrea Poretti, Giuseppina Vitiello, Raoul C M Hennekam, 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.
European Journal of Human Genetics : EJHG|February 7, 2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersLorena Travaglini, Francesco Brancati, Jennifer Silhavy, et al.
Pageof 19

Showing results (171-180 of 184) with videos related to

Sort By:
Pageof 19
Cerebellum (London, England)|April 25, 2012
Macrocerebellum: significance and pathogenic considerationsAndrea Poretti, Volker Mall, Martin Smitka, et al.
American Journal of Medical Genetics. Part A|May 13, 2017
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single centerAngela C Summers, Joseph Snow, Edythe Wiggs, et al.
Journal of Medical Genetics|January 15, 2017
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic causeAndrea Poretti, Joseph Snow, Angela C Summers, et al.
The New England Journal of Medicine|April 7, 2016
Computed Tomographic Findings in Microcephaly Associated with Zika VirusAdriano N Hazin, Andrea Poretti, Danielle Di Cavalcanti Souza Cruz, et al.
European Radiology|September 14, 2017
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.
European Radiology|July 6, 2017
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, 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.
Orphanet Journal of Rare Diseases|January 13, 2012
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VIAndrea Poretti, Giuseppina Vitiello, Raoul C M Hennekam, 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.
European Journal of Human Genetics : EJHG|February 7, 2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersLorena Travaglini, Francesco Brancati, Jennifer Silhavy, et al.
Pageof 19