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Sara Nuovo

Showing results (1-10 of 18) with videos related to

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Handbook of Clinical Neurology|June 16, 2018
Genetics of cerebellar disordersEnza Maria Valente, Sara Nuovo, Dan Doherty
Cerebellum (London, England)|November 15, 2020
The Use of New Mobile and Gaming Technologies for the Assessment and Rehabilitation of People with Ataxia: a Systematic Review and Meta-analysisEleonora Lacorte, Guido Bellomo, Sara Nuovo, et al.
American Journal of Medical Genetics. Part A|February 27, 2021
Novel unconventional variants expand the allelic spectrum of OPHN1 geneSara Nuovo, Vesna Brankovic, Caterina Caputi, et al.
Molecular Biology Reports|October 5, 2019
A novel IRF2BPL truncating variant is associated with endolysosomal storageMonia Ginevrino, Roberta Battini, Sara Nuovo, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 22, 2017
Targeted Next Generation Sequencing in patients with Myotonia CongenitaValentina Ferradini, Marco Cassone, Sara Nuovo, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|April 28, 2024
Prenatal identification of a pathogenic maternal <i>FGFR1</i> variant in two consecutive pregnancies with fetal forebrain malformationsLudovico Graziani, Sara Nuovo, Elisa Pisaneschi, et al.
Neurology|January 24, 2020
Age and sex prevalence estimate of Joubert syndrome in ItalySara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, et al.
European Radiology|August 2, 2018
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysisFilippo Arrigoni, Romina Romaniello, Denis Peruzzo, et al.
American Journal of Medical Genetics. Part A|December 8, 2015
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical developmentMary C Whitman, Caroline Andrews, Wai-Man Chan, et al.
Disability and Rehabilitation|May 19, 2021
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspectiveRomina Romaniello, Chiara Gagliardi, Patrizia Desalvo, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
Handbook of Clinical Neurology|June 16, 2018
Genetics of cerebellar disordersEnza Maria Valente, Sara Nuovo, Dan Doherty
Cerebellum (London, England)|November 15, 2020
The Use of New Mobile and Gaming Technologies for the Assessment and Rehabilitation of People with Ataxia: a Systematic Review and Meta-analysisEleonora Lacorte, Guido Bellomo, Sara Nuovo, et al.
American Journal of Medical Genetics. Part A|February 27, 2021
Novel unconventional variants expand the allelic spectrum of OPHN1 geneSara Nuovo, Vesna Brankovic, Caterina Caputi, et al.
Molecular Biology Reports|October 5, 2019
A novel IRF2BPL truncating variant is associated with endolysosomal storageMonia Ginevrino, Roberta Battini, Sara Nuovo, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 22, 2017
Targeted Next Generation Sequencing in patients with Myotonia CongenitaValentina Ferradini, Marco Cassone, Sara Nuovo, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|April 28, 2024
Prenatal identification of a pathogenic maternal <i>FGFR1</i> variant in two consecutive pregnancies with fetal forebrain malformationsLudovico Graziani, Sara Nuovo, Elisa Pisaneschi, et al.
Neurology|January 24, 2020
Age and sex prevalence estimate of Joubert syndrome in ItalySara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, et al.
European Radiology|August 2, 2018
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysisFilippo Arrigoni, Romina Romaniello, Denis Peruzzo, et al.
American Journal of Medical Genetics. Part A|December 8, 2015
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical developmentMary C Whitman, Caroline Andrews, Wai-Man Chan, et al.
Disability and Rehabilitation|May 19, 2021
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspectiveRomina Romaniello, Chiara Gagliardi, Patrizia Desalvo, et al.
Pageof 2