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Neurology. Genetics
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May 8, 2023
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders
Nika Schuermans, Hannah Verdin, Jody Ghijsels, et al.
Neurology. Genetics
|
May 18, 2023
Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy
Megane Delourme, Chaix Charlene, Laurene Gerard, et al.
Neurology. Genetics
|
June 26, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy
Stefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, et al.
Neurology. Genetics
|
May 11, 2023
Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim Syndrome: A Case Series
Angie El-Said, Jorge Luis Morales, Gian Rossi, et al.
Neurology. Genetics
|
July 9, 2020
Genetic background of ataxia in children younger than 5 years in Finland
Erika Ignatius, Pirjo Isohanni, Max Pohjanpelto, et al.
Neurology. Genetics
|
July 9, 2020
A novel <i>PRNP</i>-G131R variant associated with familial prion disease
Jumana T Alshaikh, Kefeng Qin, Lili Zhao, et al.
Neurology. Genetics
|
January 12, 2024
Novel Neuroimaging Pattern in <i>POLR3A</i>-Related Disorder on 7T MRI
Jaroslaw Dulski, Erik H Middlebrooks, Zbigniew K Wszolek
Neurology. Genetics
|
August 11, 2022
A Second Case With the V374A <i>KCND3</i> Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia
Flavia Palombo, Chiara La Morgia, Claudio Fiorini, et al.
Neurology. Genetics
|
September 17, 2021
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, et al.
Neurology. Genetics
|
August 4, 2022
Questioning the Association of the <i>STMN2</i> Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
Jay P Ross, Fulya Akçimen, Calwing Liao, et al.
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of 102
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Showing results (161-170 of 1,011) with videos related to
Sort By:
Page
of 102
Neurology. Genetics
|
May 8, 2023
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders
Nika Schuermans, Hannah Verdin, Jody Ghijsels, et al.
Neurology. Genetics
|
May 18, 2023
Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy
Megane Delourme, Chaix Charlene, Laurene Gerard, et al.
Neurology. Genetics
|
June 26, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy
Stefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, et al.
Neurology. Genetics
|
May 11, 2023
Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim Syndrome: A Case Series
Angie El-Said, Jorge Luis Morales, Gian Rossi, et al.
Neurology. Genetics
|
July 9, 2020
Genetic background of ataxia in children younger than 5 years in Finland
Erika Ignatius, Pirjo Isohanni, Max Pohjanpelto, et al.
Neurology. Genetics
|
July 9, 2020
A novel <i>PRNP</i>-G131R variant associated with familial prion disease
Jumana T Alshaikh, Kefeng Qin, Lili Zhao, et al.
Neurology. Genetics
|
January 12, 2024
Novel Neuroimaging Pattern in <i>POLR3A</i>-Related Disorder on 7T MRI
Jaroslaw Dulski, Erik H Middlebrooks, Zbigniew K Wszolek
Neurology. Genetics
|
August 11, 2022
A Second Case With the V374A <i>KCND3</i> Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia
Flavia Palombo, Chiara La Morgia, Claudio Fiorini, et al.
Neurology. Genetics
|
September 17, 2021
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, et al.
Neurology. Genetics
|
August 4, 2022
Questioning the Association of the <i>STMN2</i> Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
Jay P Ross, Fulya Akçimen, Calwing Liao, et al.
Page
of 102