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European Journal of Human Genetics : EJHG
|
February 14, 2013
Clinical utility gene card for: Joubert syndrome--update 2013
Enza Maria Valente, Francesco Brancati, Eugen Boltshauser, et al.
Briefings in Bioinformatics
|
August 11, 2012
A solid quality-control analysis of AB SOLiD short-read sequencing data
Stefano Castellana, Marta Romani, Enza Maria Valente, et al.
Neurology. Genetics
|
April 29, 2016
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies
Marta Romani, Cybel Mehawej, Tommaso Mazza, et al.
Annals of Neurology
|
December 8, 2023
MRI Abnormalities Identify Neuronal Intranuclear Inclusion Disease
Tiziana De Santis, Letterio S Politi, Enza Maria Valente, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 7, 2015
Candidate genes for Parkinson disease: Lessons from pathogenesis
Priscilla De Rosa, Elettra Sara Marini, Vania Gelmetti, et al.
Parkinsonism & Related Disorders
|
December 5, 2021
Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration
Francesca Antonelli, Gaetano Grieco, Francesco Cavallieri, et al.
Movement Disorders Clinical Practice
|
January 27, 2023
Benign Hereditary Chorea as a Manifestation of HPCA Mutation
Sara Brunetti, Serena Micheletti, Ilaria Palmieri, et al.
Nature Reviews. Neurology
|
December 4, 2013
Primary cilia in neurodevelopmental disorders
Enza Maria Valente, Rasim O Rosti, Elizabeth Gibbs, et al.
Journal of Pediatric Neurosciences
|
September 14, 2019
Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl
Sakshi Jain, Himani Bhasin, Marta Romani, et al.
American Journal of Medical Genetics. Part A
|
October 20, 2022
Mosaic Williams syndrome: A case report
Silvia Kalantari, Marta Di Biagio, Enza Maria Valente, et al.
Page
of 34
Search research articles
Search
Showing results (31-40 of 335) with videos related to
Sort By:
Page
of 34
European Journal of Human Genetics : EJHG
|
February 14, 2013
Clinical utility gene card for: Joubert syndrome--update 2013
Enza Maria Valente, Francesco Brancati, Eugen Boltshauser, et al.
Briefings in Bioinformatics
|
August 11, 2012
A solid quality-control analysis of AB SOLiD short-read sequencing data
Stefano Castellana, Marta Romani, Enza Maria Valente, et al.
Neurology. Genetics
|
April 29, 2016
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies
Marta Romani, Cybel Mehawej, Tommaso Mazza, et al.
Annals of Neurology
|
December 8, 2023
MRI Abnormalities Identify Neuronal Intranuclear Inclusion Disease
Tiziana De Santis, Letterio S Politi, Enza Maria Valente, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 7, 2015
Candidate genes for Parkinson disease: Lessons from pathogenesis
Priscilla De Rosa, Elettra Sara Marini, Vania Gelmetti, et al.
Parkinsonism & Related Disorders
|
December 5, 2021
Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration
Francesca Antonelli, Gaetano Grieco, Francesco Cavallieri, et al.
Movement Disorders Clinical Practice
|
January 27, 2023
Benign Hereditary Chorea as a Manifestation of HPCA Mutation
Sara Brunetti, Serena Micheletti, Ilaria Palmieri, et al.
Nature Reviews. Neurology
|
December 4, 2013
Primary cilia in neurodevelopmental disorders
Enza Maria Valente, Rasim O Rosti, Elizabeth Gibbs, et al.
Journal of Pediatric Neurosciences
|
September 14, 2019
Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl
Sakshi Jain, Himani Bhasin, Marta Romani, et al.
American Journal of Medical Genetics. Part A
|
October 20, 2022
Mosaic Williams syndrome: A case report
Silvia Kalantari, Marta Di Biagio, Enza Maria Valente, et al.
Page
of 34