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Brain : a Journal of Neurology
|
November 18, 2021
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
Semra Hiz Kurul, Yavuz Oktay, Ana Töpf, et al.
Cerebellum (London, England)
|
April 15, 2024
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
Dilek Cavusoglu, Gulten Ozturk, Dilsad Turkdogan, et al.
Brain : a Journal of Neurology
|
September 16, 2024
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
Micol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara, et al.
Annals of Neurology
|
April 28, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients
Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, et al.
American Journal of Human Genetics
|
March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 17, 2026
The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications
Sanem Yilmaz, Esra Serdaroglu, Erdem Simsek, et al.
Brain : a Journal of Neurology
|
April 4, 2022
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, et al.
Nature Communications
|
March 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Viorica Chelban, Henriette Aksnes, Reza Maroofian, et al.
Neuropediatrics
|
February 14, 2023
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study
Çağatay Günay, Duygu Aykol, Özlem Özsoy, et al.
Brain : a Journal of Neurology
|
July 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversity
Lindsay A Wilson, William L Macken, Luke D Perry, et al.
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Search research articles
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Showing results (61-70 of 72) with videos related to
Sort By:
Page
of 8
Brain : a Journal of Neurology
|
November 18, 2021
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
Semra Hiz Kurul, Yavuz Oktay, Ana Töpf, et al.
Cerebellum (London, England)
|
April 15, 2024
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
Dilek Cavusoglu, Gulten Ozturk, Dilsad Turkdogan, et al.
Brain : a Journal of Neurology
|
September 16, 2024
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
Micol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara, et al.
Annals of Neurology
|
April 28, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients
Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, et al.
American Journal of Human Genetics
|
March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 17, 2026
The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications
Sanem Yilmaz, Esra Serdaroglu, Erdem Simsek, et al.
Brain : a Journal of Neurology
|
April 4, 2022
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, et al.
Nature Communications
|
March 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Viorica Chelban, Henriette Aksnes, Reza Maroofian, et al.
Neuropediatrics
|
February 14, 2023
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study
Çağatay Günay, Duygu Aykol, Özlem Özsoy, et al.
Brain : a Journal of Neurology
|
July 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversity
Lindsay A Wilson, William L Macken, Luke D Perry, et al.
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of 8