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Genes
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July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature
Gabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, et al.
Science Advances
|
July 3, 2021
A live single-cell reporter assay links intratumor heterogeneity to metastatic proclivity in Ewing sarcoma
Tugba Keskin, Beatrice Rucci, Sandrine Cornaz-Buros, et al.
Molecular Syndromology
|
December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review
Ilenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.
Genes
|
January 21, 2022
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis
Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, et al.
Parkinsonism & Related Disorders
|
May 18, 2017
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, et al.
International Journal of Molecular Sciences
|
January 27, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study
Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, et al.
Genes
|
August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic Spectrum
Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 31, 2026
Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5)
Aurélie Méneret, Clément Tarrano, Asya Ekmen, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
August 28, 2022
EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome
Silvia Masnada, Enrico Alfei, Manuela Formica, et al.
Frontiers in Neurology
|
August 28, 2020
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in <i>SCN4A</i> in a Large Cohort of Italian Patients
Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, et al.
Page
of 15
Search research articles
Search
Showing results (121-130 of 149) with videos related to
Sort By:
Page
of 15
Genes
|
July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature
Gabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, et al.
Science Advances
|
July 3, 2021
A live single-cell reporter assay links intratumor heterogeneity to metastatic proclivity in Ewing sarcoma
Tugba Keskin, Beatrice Rucci, Sandrine Cornaz-Buros, et al.
Molecular Syndromology
|
December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review
Ilenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.
Genes
|
January 21, 2022
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis
Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, et al.
Parkinsonism & Related Disorders
|
May 18, 2017
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, et al.
International Journal of Molecular Sciences
|
January 27, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study
Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, et al.
Genes
|
August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic Spectrum
Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 31, 2026
Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5)
Aurélie Méneret, Clément Tarrano, Asya Ekmen, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
August 28, 2022
EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome
Silvia Masnada, Enrico Alfei, Manuela Formica, et al.
Frontiers in Neurology
|
August 28, 2020
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in <i>SCN4A</i> in a Large Cohort of Italian Patients
Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, et al.
Page
of 15