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Molecular Syndromology
|
February 20, 2018
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family
Barbara Vona, Reza Maroofian, Geetu Mendiratta, et al.
European Journal of Pediatrics
|
March 11, 2026
Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants
Wessam Sharaf-Eldin, Raghda M Ghorab, Karima Rafat, et al.
Epilepsia
|
April 26, 2021
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function
Marcello Scala, Stephanie Efthymiou, Tipu Sultan, et al.
Movement Disorders Clinical Practice
|
January 26, 2023
Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense <i>HPCA</i> Variant: Case Series and Literature Review
Francesca Magrinelli, Kailash P Bhatia, Mehran Beiraghi Toosi, et al.
Annals of Neurology
|
August 29, 2025
Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia
Nathan Routledge, Maxime Lammens, Reza Maroofian, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 29, 2025
Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia
Reza Maroofian, Juan Darío Ortigoza-Escobar, Pooja Rohilla, et al.
Antioxidants (Basel, Switzerland)
|
June 27, 2024
Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum
Eboni M V Bucknor, Errin Johnson, Stephanie Efthymiou, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 29, 2025
Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia
Reza Maroofian, Giulia Spoto, Dalila Moualek, et al.
BMC Medical Genetics
|
May 20, 2018
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family
Michaela A H Hofrichter, Majid Mojarad, Julia Doll, et al.
The Journal of Biological Chemistry
|
November 27, 2025
Neurodevelopmental disease-causing variants in choline kinase CHKA gene couple phosphatidylcholine synthesis to oxidative stress damage and disease etiology
Mahtab Tavasoli, Mariam Alkandari, Gabriel Dorighello, et al.
Page
of 28
Search research articles
Search
Showing results (11-20 of 276) with videos related to
Sort By:
Page
of 28
Molecular Syndromology
|
February 20, 2018
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family
Barbara Vona, Reza Maroofian, Geetu Mendiratta, et al.
European Journal of Pediatrics
|
March 11, 2026
Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants
Wessam Sharaf-Eldin, Raghda M Ghorab, Karima Rafat, et al.
Epilepsia
|
April 26, 2021
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function
Marcello Scala, Stephanie Efthymiou, Tipu Sultan, et al.
Movement Disorders Clinical Practice
|
January 26, 2023
Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense <i>HPCA</i> Variant: Case Series and Literature Review
Francesca Magrinelli, Kailash P Bhatia, Mehran Beiraghi Toosi, et al.
Annals of Neurology
|
August 29, 2025
Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia
Nathan Routledge, Maxime Lammens, Reza Maroofian, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 29, 2025
Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia
Reza Maroofian, Juan Darío Ortigoza-Escobar, Pooja Rohilla, et al.
Antioxidants (Basel, Switzerland)
|
June 27, 2024
Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum
Eboni M V Bucknor, Errin Johnson, Stephanie Efthymiou, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 29, 2025
Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia
Reza Maroofian, Giulia Spoto, Dalila Moualek, et al.
BMC Medical Genetics
|
May 20, 2018
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family
Michaela A H Hofrichter, Majid Mojarad, Julia Doll, et al.
The Journal of Biological Chemistry
|
November 27, 2025
Neurodevelopmental disease-causing variants in choline kinase CHKA gene couple phosphatidylcholine synthesis to oxidative stress damage and disease etiology
Mahtab Tavasoli, Mariam Alkandari, Gabriel Dorighello, et al.
Page
of 28