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American Journal of Medical Genetics. Part A
|
February 7, 2024
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature
Davide Politano, Fulvio D'Abrusco, Ludovica Pasca, et al.
European Radiology
|
August 2, 2018
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis
Filippo Arrigoni, Romina Romaniello, Denis Peruzzo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 17, 2013
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria
Miryam Carecchio, Monia Magliozzi, Massimiliano Copetti, et al.
Orphanet Journal of Rare Diseases
|
June 10, 2011
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients
Marilena Briguglio, Lorenzo Pinelli, Lucio Giordano, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 4, 2024
Functional Study of SNCA p.V15A Variant: Further Linking α-Synuclein and Glucocerebrosidase
Micol Avenali, Silvia Cerri, Ilaria Palmieri, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 6, 2009
Olfactory dysfunction in Parkinsonism caused by PINK1 mutations
Alessandro Ferraris, Tamara Ialongo, Giulio Cesare Passali, et al.
Clinical Genetics
|
June 5, 2024
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract
Mauro Lecca, Lucia Mauri, Simone Gana, et al.
Orphanet Journal of Rare Diseases
|
May 2, 2023
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
Simone Schröder, Gökhan Yigit, Yun Li, et al.
International Journal of Molecular Sciences
|
June 24, 2022
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose <i>ITPR1</i>-Related Disorders
Romina Romaniello, Ludovica Pasca, Elena Panzeri, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 15, 2024
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease
Nikolaos Papagiannakis, Hui Liu, Christos Koros, et al.
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of 36
Search research articles
Search
Showing results (181-190 of 358) with videos related to
Sort By:
Page
of 36
American Journal of Medical Genetics. Part A
|
February 7, 2024
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature
Davide Politano, Fulvio D'Abrusco, Ludovica Pasca, et al.
European Radiology
|
August 2, 2018
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis
Filippo Arrigoni, Romina Romaniello, Denis Peruzzo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 17, 2013
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria
Miryam Carecchio, Monia Magliozzi, Massimiliano Copetti, et al.
Orphanet Journal of Rare Diseases
|
June 10, 2011
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients
Marilena Briguglio, Lorenzo Pinelli, Lucio Giordano, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 4, 2024
Functional Study of SNCA p.V15A Variant: Further Linking α-Synuclein and Glucocerebrosidase
Micol Avenali, Silvia Cerri, Ilaria Palmieri, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 6, 2009
Olfactory dysfunction in Parkinsonism caused by PINK1 mutations
Alessandro Ferraris, Tamara Ialongo, Giulio Cesare Passali, et al.
Clinical Genetics
|
June 5, 2024
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract
Mauro Lecca, Lucia Mauri, Simone Gana, et al.
Orphanet Journal of Rare Diseases
|
May 2, 2023
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
Simone Schröder, Gökhan Yigit, Yun Li, et al.
International Journal of Molecular Sciences
|
June 24, 2022
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose <i>ITPR1</i>-Related Disorders
Romina Romaniello, Ludovica Pasca, Elena Panzeri, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 15, 2024
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease
Nikolaos Papagiannakis, Hui Liu, Christos Koros, et al.
Page
of 36