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Neurology. Genetics
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January 13, 2023
Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia
Matthias Amprosi, Elisabetta Indelicato, Andreas Eigentler, et al.
Neurology. Genetics
|
December 19, 2022
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of <i>HTRA1</i>
Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, et al.
Neurology. Genetics
|
December 19, 2022
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, et al.
Neurology. Genetics
|
December 19, 2022
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region
Christelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, et al.
Neurology. Genetics
|
June 3, 2022
Epilepsy Course and Developmental Trajectories in <i>STXBP1</i>-DEE
Ganna Balagura, Julie Xian, Antonella Riva, et al.
Neurology. Genetics
|
December 16, 2022
Blended Phenotype of Prader-Willi Syndrome and HSP-<i>SPG11</i> Caused by Maternal Uniparental Isodisomy
Avaneesh R Kunta, Jeremy Jueng, Catherine Jordan, et al.
Neurology. Genetics
|
December 16, 2022
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in <i>RFC1</i> Resulting in CANVAS Syndrome
Katherine Abell King, Daniel J Wegner, Robert C Bucelli, et al.
Neurology. Genetics
|
December 7, 2022
Somatic Variants in SVIL in Cerebral Aneurysms
Pui Man Rosalind Lai, Jee-Yeon Ryu, Sang-Cheol Park, et al.
Neurology. Genetics
|
June 24, 2022
Genome Sequencing in the Parkinson Disease Clinic
Emily J Hill, Laurie A Robak, Rami Al-Ouran, et al.
Neurology. Genetics
|
December 30, 2020
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
Rita Selvatici, Rachele Rossi, Fernanda Fortunato, et al.
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Search research articles
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Showing results (741-750 of 842) with videos related to
Sort By:
Page
of 85
Neurology. Genetics
|
January 13, 2023
Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia
Matthias Amprosi, Elisabetta Indelicato, Andreas Eigentler, et al.
Neurology. Genetics
|
December 19, 2022
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of <i>HTRA1</i>
Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, et al.
Neurology. Genetics
|
December 19, 2022
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, et al.
Neurology. Genetics
|
December 19, 2022
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region
Christelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, et al.
Neurology. Genetics
|
June 3, 2022
Epilepsy Course and Developmental Trajectories in <i>STXBP1</i>-DEE
Ganna Balagura, Julie Xian, Antonella Riva, et al.
Neurology. Genetics
|
December 16, 2022
Blended Phenotype of Prader-Willi Syndrome and HSP-<i>SPG11</i> Caused by Maternal Uniparental Isodisomy
Avaneesh R Kunta, Jeremy Jueng, Catherine Jordan, et al.
Neurology. Genetics
|
December 16, 2022
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in <i>RFC1</i> Resulting in CANVAS Syndrome
Katherine Abell King, Daniel J Wegner, Robert C Bucelli, et al.
Neurology. Genetics
|
December 7, 2022
Somatic Variants in SVIL in Cerebral Aneurysms
Pui Man Rosalind Lai, Jee-Yeon Ryu, Sang-Cheol Park, et al.
Neurology. Genetics
|
June 24, 2022
Genome Sequencing in the Parkinson Disease Clinic
Emily J Hill, Laurie A Robak, Rami Al-Ouran, et al.
Neurology. Genetics
|
December 30, 2020
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
Rita Selvatici, Rachele Rossi, Fernanda Fortunato, et al.
Page
of 85