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Enza Maria Valente

Showing results (21-30 of 335) with videos related to

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Pediatric Neurology|April 16, 2014
The molar tooth sign is pathognomonic for Joubert syndrome!Andrea Poretti, Eugen Boltshauser, Enza Maria Valente
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 3, 2022
Genotype-phenotype correlates in Joubert syndrome: A reviewSimone Gana, Valentina Serpieri, Enza Maria Valente
European Journal of Medical Genetics|January 1, 2008
Genotypes and phenotypes of Joubert syndrome and related disordersEnza Maria Valente, Francesco Brancati, Bruno Dallapiccola
The Lancet. Neurology|July 23, 2013
Joubert syndrome: congenital cerebellar ataxia with the molar toothMarta Romani, Alessia Micalizzi, Enza Maria Valente
Parkinsonism & Related Disorders|September 6, 2015
Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular modelsSimona Petrucci, Monia Ginevrino, Enza Maria Valente
Pediatric Research|March 22, 2024
Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlatesSabrina Ravaglia, Simone Gana, Enza Maria Valente
Mechanisms of Ageing and Development|June 7, 2020
Mechanisms of neurodegeneration in Parkinson's disease: keep neurons in the PINK1Francesco Brunelli, Enza Maria Valente, Giuseppe Arena
Handbook of Clinical Neurology|April 30, 2013
Joubert syndrome and related disordersEnza Maria Valente, Bruno Dallapiccola, Enrico Bertini
Parkinsonism & Related Disorders|December 15, 2011
Molecular pathways in sporadic PDEnza Maria Valente, Giuseppe Arena, Liliana Torosantucci, et al.
European Journal of Human Genetics : EJHG|March 31, 2011
Clinical utility gene card for: Joubert syndromeEnza Maria Valente, Francesco Brancati, Eugen Boltshauser, et al.
Pageof 34

Showing results (21-30 of 335) with videos related to

Sort By:
Pageof 34
Pediatric Neurology|April 16, 2014
The molar tooth sign is pathognomonic for Joubert syndrome!Andrea Poretti, Eugen Boltshauser, Enza Maria Valente
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 3, 2022
Genotype-phenotype correlates in Joubert syndrome: A reviewSimone Gana, Valentina Serpieri, Enza Maria Valente
European Journal of Medical Genetics|January 1, 2008
Genotypes and phenotypes of Joubert syndrome and related disordersEnza Maria Valente, Francesco Brancati, Bruno Dallapiccola
The Lancet. Neurology|July 23, 2013
Joubert syndrome: congenital cerebellar ataxia with the molar toothMarta Romani, Alessia Micalizzi, Enza Maria Valente
Parkinsonism & Related Disorders|September 6, 2015
Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular modelsSimona Petrucci, Monia Ginevrino, Enza Maria Valente
Pediatric Research|March 22, 2024
Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlatesSabrina Ravaglia, Simone Gana, Enza Maria Valente
Mechanisms of Ageing and Development|June 7, 2020
Mechanisms of neurodegeneration in Parkinson's disease: keep neurons in the PINK1Francesco Brunelli, Enza Maria Valente, Giuseppe Arena
Handbook of Clinical Neurology|April 30, 2013
Joubert syndrome and related disordersEnza Maria Valente, Bruno Dallapiccola, Enrico Bertini
Parkinsonism & Related Disorders|December 15, 2011
Molecular pathways in sporadic PDEnza Maria Valente, Giuseppe Arena, Liliana Torosantucci, et al.
European Journal of Human Genetics : EJHG|March 31, 2011
Clinical utility gene card for: Joubert syndromeEnza Maria Valente, Francesco Brancati, Eugen Boltshauser, et al.
Pageof 34