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Brahim Tabarki

Showing results (71-80 of 99) with videos related to

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Journal of Child Neurology|December 1, 2025
Clinical and Genetic Spectrum of <i>SCN8A</i>-Related Disorders: A Retrospective Study From the Gulf RegionOsama Muthaffar, Mashael Alsubhan, Ali Mir, et al.
Clinical Genetics|July 9, 2025
SLC25A42-Related Mitochondrial Disorder: New Cases and Literature ReviewAreej Alatawi, Omamah Alshehri, Aminah Alessa, et al.
EMBO Molecular Medicine|May 5, 2026
Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalitiesNanako Hamada, Lama AlAbdi, Tomoko Uehara, et al.
Annals of Clinical and Translational Neurology|September 27, 2019
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screeningMajid Alfadhel, Muhammad Umair, Bader Almuzzaini, et al.
Pediatric Neurology|July 16, 2022
Hereditary Hyperekplexia in Saudi ArabiaAmal Aldhilan, Afnan Alhakeem, Sumayah Al Hajjaj, et al.
Frontiers in Pediatrics|November 9, 2020
Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi ArabiaFahad A Bashiri, Sultan Al Johani, Muddathir H Hamad, et al.
Molecular Genetics and Metabolism|September 5, 2018
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significanceMohammed Almannai, Julia Wang, Hongzheng Dai, et al.
Seizure|April 16, 2023
Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep in Saudi Arabia: Electroclinical, etiologic, genetic, and outcome multicenter studyHanin Alsini, Abdulaziz Alghamdi, Shatha Alshafi, et al.
Clinical Genetics|October 7, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy SpectrumLuba M Pardo, Javier Martini, Emir Zonic, et al.
Molecular Genetics and Metabolism|April 30, 2017
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yieldAhmed Alfares, Majid Alfadhel, Tariq Wani, et al.
Pageof 10

Showing results (71-80 of 99) with videos related to

Sort By:
Pageof 10
Journal of Child Neurology|December 1, 2025
Clinical and Genetic Spectrum of <i>SCN8A</i>-Related Disorders: A Retrospective Study From the Gulf RegionOsama Muthaffar, Mashael Alsubhan, Ali Mir, et al.
Clinical Genetics|July 9, 2025
SLC25A42-Related Mitochondrial Disorder: New Cases and Literature ReviewAreej Alatawi, Omamah Alshehri, Aminah Alessa, et al.
EMBO Molecular Medicine|May 5, 2026
Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalitiesNanako Hamada, Lama AlAbdi, Tomoko Uehara, et al.
Annals of Clinical and Translational Neurology|September 27, 2019
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screeningMajid Alfadhel, Muhammad Umair, Bader Almuzzaini, et al.
Pediatric Neurology|July 16, 2022
Hereditary Hyperekplexia in Saudi ArabiaAmal Aldhilan, Afnan Alhakeem, Sumayah Al Hajjaj, et al.
Frontiers in Pediatrics|November 9, 2020
Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi ArabiaFahad A Bashiri, Sultan Al Johani, Muddathir H Hamad, et al.
Molecular Genetics and Metabolism|September 5, 2018
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significanceMohammed Almannai, Julia Wang, Hongzheng Dai, et al.
Seizure|April 16, 2023
Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep in Saudi Arabia: Electroclinical, etiologic, genetic, and outcome multicenter studyHanin Alsini, Abdulaziz Alghamdi, Shatha Alshafi, et al.
Clinical Genetics|October 7, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy SpectrumLuba M Pardo, Javier Martini, Emir Zonic, et al.
Molecular Genetics and Metabolism|April 30, 2017
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yieldAhmed Alfares, Majid Alfadhel, Tariq Wani, et al.
Pageof 10