Search research articles
Contact Us
Filters
Showing results (21-30 of 335) with videos related to
Page
of 34
Sort By:
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 review
Simone Gana, Valentina Serpieri, Enza Maria Valente
European Journal of Medical Genetics
|
January 1, 2008
Genotypes and phenotypes of Joubert syndrome and related disorders
Enza Maria Valente, Francesco Brancati, Bruno Dallapiccola
The Lancet. Neurology
|
July 23, 2013
Joubert syndrome: congenital cerebellar ataxia with the molar tooth
Marta Romani, Alessia Micalizzi, Enza Maria Valente
Parkinsonism & Related Disorders
|
September 6, 2015
Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models
Simona 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 correlates
Sabrina 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 PINK1
Francesco Brunelli, Enza Maria Valente, Giuseppe Arena
Handbook of Clinical Neurology
|
April 30, 2013
Joubert syndrome and related disorders
Enza Maria Valente, Bruno Dallapiccola, Enrico Bertini
Parkinsonism & Related Disorders
|
December 15, 2011
Molecular pathways in sporadic PD
Enza Maria Valente, Giuseppe Arena, Liliana Torosantucci, et al.
European Journal of Human Genetics : EJHG
|
March 31, 2011
Clinical utility gene card for: Joubert syndrome
Enza Maria Valente, Francesco Brancati, Eugen Boltshauser, et al.
Page
of 34
Search research articles
Search
Showing results (21-30 of 335) with videos related to
Sort By:
Page
of 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 review
Simone Gana, Valentina Serpieri, Enza Maria Valente
European Journal of Medical Genetics
|
January 1, 2008
Genotypes and phenotypes of Joubert syndrome and related disorders
Enza Maria Valente, Francesco Brancati, Bruno Dallapiccola
The Lancet. Neurology
|
July 23, 2013
Joubert syndrome: congenital cerebellar ataxia with the molar tooth
Marta Romani, Alessia Micalizzi, Enza Maria Valente
Parkinsonism & Related Disorders
|
September 6, 2015
Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models
Simona 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 correlates
Sabrina 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 PINK1
Francesco Brunelli, Enza Maria Valente, Giuseppe Arena
Handbook of Clinical Neurology
|
April 30, 2013
Joubert syndrome and related disorders
Enza Maria Valente, Bruno Dallapiccola, Enrico Bertini
Parkinsonism & Related Disorders
|
December 15, 2011
Molecular pathways in sporadic PD
Enza Maria Valente, Giuseppe Arena, Liliana Torosantucci, et al.
European Journal of Human Genetics : EJHG
|
March 31, 2011
Clinical utility gene card for: Joubert syndrome
Enza Maria Valente, Francesco Brancati, Eugen Boltshauser, et al.
Page
of 34