Search research articles
Contact Us
Filters
Showing results (171-180 of 196) with videos related to
Page
of 20
Sort By:
Neurogenetics
|
February 15, 2023
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families
Haseena Sait, Somya Srivastava, Manmohan Pandey, et al.
Neurology
|
January 13, 2019
Leukoencephalopathy due to variants in <i>GFPT1-</i>associated congenital myasthenic syndrome
Guy Helman, Suvasini Sharma, Joanna Crawford, et al.
Microorganisms
|
April 30, 2021
Defeating Paediatric Tuberculous Meningitis: Applying the WHO "Defeating Meningitis by 2030: Global Roadmap"
Robindra Basu Roy, Sabrina Bakeera-Kitaka, Chishala Chabala, et al.
Clinical Dysmorphology
|
August 14, 2024
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature
Selinda Mascarenhas, Mayuri Yeole, Lakshmi Priya Rao, et al.
Journal of Inherited Metabolic Disease
|
May 5, 2025
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2
Sherry Fang, Peter T Clayton, Divyani Garg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 18, 2015
Manganese transport disorder: novel SLC30A10 mutations and early phenotypes
Marialuisa Quadri, Mahesh Kamate, Suvasini Sharma, et al.
Journal of Neurosurgery. Pediatrics
|
January 22, 2026
Seizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical development
Sonali Singh, Adnan Waheed, Nitin Gupta, et al.
European Journal of Human Genetics : EJHG
|
July 19, 2021
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling
Dhanya Lakshmi Narayanan, Divya Udyawar, Parneet Kaur, et al.
Neurology. Genetics
|
May 22, 2025
<i>PRRT</i> <i>2</i>-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes
Madeline Komar, Jashanpreet Sidhu, Jiju Joseph, et al.
Brain, Behavior, and Immunity
|
January 10, 2021
Maternal autoimmunity and inflammation are associated with childhood tics and obsessive-compulsive disorder: Transcriptomic data show common enriched innate immune pathways
Hannah F Jones, Velda X Han, Shrujna Patel, et al.
Page
of 20
Search research articles
Search
Showing results (171-180 of 196) with videos related to
Sort By:
Page
of 20
Neurogenetics
|
February 15, 2023
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families
Haseena Sait, Somya Srivastava, Manmohan Pandey, et al.
Neurology
|
January 13, 2019
Leukoencephalopathy due to variants in <i>GFPT1-</i>associated congenital myasthenic syndrome
Guy Helman, Suvasini Sharma, Joanna Crawford, et al.
Microorganisms
|
April 30, 2021
Defeating Paediatric Tuberculous Meningitis: Applying the WHO "Defeating Meningitis by 2030: Global Roadmap"
Robindra Basu Roy, Sabrina Bakeera-Kitaka, Chishala Chabala, et al.
Clinical Dysmorphology
|
August 14, 2024
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature
Selinda Mascarenhas, Mayuri Yeole, Lakshmi Priya Rao, et al.
Journal of Inherited Metabolic Disease
|
May 5, 2025
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2
Sherry Fang, Peter T Clayton, Divyani Garg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 18, 2015
Manganese transport disorder: novel SLC30A10 mutations and early phenotypes
Marialuisa Quadri, Mahesh Kamate, Suvasini Sharma, et al.
Journal of Neurosurgery. Pediatrics
|
January 22, 2026
Seizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical development
Sonali Singh, Adnan Waheed, Nitin Gupta, et al.
European Journal of Human Genetics : EJHG
|
July 19, 2021
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling
Dhanya Lakshmi Narayanan, Divya Udyawar, Parneet Kaur, et al.
Neurology. Genetics
|
May 22, 2025
<i>PRRT</i> <i>2</i>-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes
Madeline Komar, Jashanpreet Sidhu, Jiju Joseph, et al.
Brain, Behavior, and Immunity
|
January 10, 2021
Maternal autoimmunity and inflammation are associated with childhood tics and obsessive-compulsive disorder: Transcriptomic data show common enriched innate immune pathways
Hannah F Jones, Velda X Han, Shrujna Patel, et al.
Page
of 20