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Journal of Neurology
|
February 16, 2023
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.
Journal of Neurology
|
October 15, 2021
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, 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.
Clinical Genetics
|
February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
Neurology
|
December 5, 2020
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome
Silvia Masnada, Anna Pichiecchio, Manuela Formica, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, et al.
Brain : a Journal of Neurology
|
October 24, 2018
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Carla Marini, Alessandro Porro, Agnès Rastetter, et al.
Journal of Medical Genetics
|
August 16, 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, et al.
Molecular Genetics & Genomic Medicine
|
January 29, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, et al.
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Showing results (141-150 of 149) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 149 results.
Journal of Neurology
|
February 16, 2023
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.
Journal of Neurology
|
October 15, 2021
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, 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.
Clinical Genetics
|
February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
Neurology
|
December 5, 2020
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome
Silvia Masnada, Anna Pichiecchio, Manuela Formica, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, et al.
Brain : a Journal of Neurology
|
October 24, 2018
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Carla Marini, Alessandro Porro, Agnès Rastetter, et al.
Journal of Medical Genetics
|
August 16, 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, et al.
Molecular Genetics & Genomic Medicine
|
January 29, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, et al.
Page
of 15