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Brain : a Journal of Neurology
|
October 8, 2025
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects
Saikat Ghosh, Jaskaran Singh, Nadirah S Damseh, et al.
Journal of Medical Genetics
|
May 1, 2014
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, et al.
American Journal of Human Genetics
|
October 29, 2024
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
Scott Barish, Sheng-Jia Lin, Reza Maroofian, et al.
JCI Insight
|
October 5, 2023
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors
Ghada M H Abdel-Salam, Susanne Hellmuth, Elise Gradhand, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
European Journal of Human Genetics : EJHG
|
August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
Aida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
Journal of Neurology
|
July 1, 2018
Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias
Heike Jacobi, Sophie Tezenas du Montcel, Peter Bauer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
René G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 7, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, et al.
Brain : a Journal of Neurology
|
December 23, 2023
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
Ralf A Husain, Xinfu Jiao, J Christopher Hennings, et al.
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Search research articles
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Showing results (531-540 of 585) with videos related to
Sort By:
Page
of 59
Brain : a Journal of Neurology
|
October 8, 2025
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects
Saikat Ghosh, Jaskaran Singh, Nadirah S Damseh, et al.
Journal of Medical Genetics
|
May 1, 2014
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, et al.
American Journal of Human Genetics
|
October 29, 2024
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
Scott Barish, Sheng-Jia Lin, Reza Maroofian, et al.
JCI Insight
|
October 5, 2023
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors
Ghada M H Abdel-Salam, Susanne Hellmuth, Elise Gradhand, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
European Journal of Human Genetics : EJHG
|
August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
Aida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
Journal of Neurology
|
July 1, 2018
Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias
Heike Jacobi, Sophie Tezenas du Montcel, Peter Bauer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
René G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 7, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, et al.
Brain : a Journal of Neurology
|
December 23, 2023
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
Ralf A Husain, Xinfu Jiao, J Christopher Hennings, et al.
Page
of 59