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Neurogenetics

Showing results (491-500 of 1,081) with videos related to

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Neurogenetics|February 27, 2025
The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiencyRojan İpek, Akçahan Akalın, Esra Habiloğlu, et al.
Neurogenetics|February 24, 2025
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNPSara Scaccini, Carlo Alberto Cesaroni, Stefano Giuseppe Caraffi, et al.
Neurogenetics|February 15, 2025
ABCB1 c.3435 C > T (rs1045642) as a biomarker for carbamazepine efficacy and toxicity in Algerian patients with epilepsy: initial findings reportRachda Riffi, Wefa Boughrara, Meriem Samia Aberkane, et al.
Neurogenetics|January 24, 2025
The molecular mechanism of nitric oxide in memory consolidation and its role in the pathogenesis of memory-related disordersZainab I Bahdar, Ejlal Abu-El-Rub, Rawan Almazari, et al.
Neurogenetics|November 20, 2024
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variantsLena Sagi-Dain, Annemieke Aartsma-Rus, Moran Echar, et al.
Neurogenetics|November 26, 2024
Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndromeAida Ghasemi, Seyed Jalaleddin Hadei, Sara KamaliZonouzi, et al.
Neurogenetics|December 3, 2024
Neurodegeneration with brain iron accumulation 5: report of three casesSheyda Khalilian, Mohadeseh Fathi, Akram Ghahghaei-Nezamabadi, et al.
Neurogenetics|August 1, 2024
A novel variant in the GNE gene in a Malian patient presenting with distal myopathyMahamadou Kotioumbé, Alassane B Maiga, Salia Bamba, et al.
Neurogenetics|July 8, 2024
Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder familiesMehdi Agha Gholizadeh, Farkhondeh Behjati, Saghar Ghasemi Firouzabadi, et al.
Neurogenetics|August 27, 2024
Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs)P Carballo-Pacoret, A Carracedo, C Rodriguez-Fontenla
Pageof 109

Showing results (491-500 of 1,081) with videos related to

Sort By:
Pageof 109
Neurogenetics|February 27, 2025
The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiencyRojan İpek, Akçahan Akalın, Esra Habiloğlu, et al.
Neurogenetics|February 24, 2025
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNPSara Scaccini, Carlo Alberto Cesaroni, Stefano Giuseppe Caraffi, et al.
Neurogenetics|February 15, 2025
ABCB1 c.3435 C > T (rs1045642) as a biomarker for carbamazepine efficacy and toxicity in Algerian patients with epilepsy: initial findings reportRachda Riffi, Wefa Boughrara, Meriem Samia Aberkane, et al.
Neurogenetics|January 24, 2025
The molecular mechanism of nitric oxide in memory consolidation and its role in the pathogenesis of memory-related disordersZainab I Bahdar, Ejlal Abu-El-Rub, Rawan Almazari, et al.
Neurogenetics|November 20, 2024
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variantsLena Sagi-Dain, Annemieke Aartsma-Rus, Moran Echar, et al.
Neurogenetics|November 26, 2024
Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndromeAida Ghasemi, Seyed Jalaleddin Hadei, Sara KamaliZonouzi, et al.
Neurogenetics|December 3, 2024
Neurodegeneration with brain iron accumulation 5: report of three casesSheyda Khalilian, Mohadeseh Fathi, Akram Ghahghaei-Nezamabadi, et al.
Neurogenetics|August 1, 2024
A novel variant in the GNE gene in a Malian patient presenting with distal myopathyMahamadou Kotioumbé, Alassane B Maiga, Salia Bamba, et al.
Neurogenetics|July 8, 2024
Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder familiesMehdi Agha Gholizadeh, Farkhondeh Behjati, Saghar Ghasemi Firouzabadi, et al.
Neurogenetics|August 27, 2024
Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs)P Carballo-Pacoret, A Carracedo, C Rodriguez-Fontenla
Pageof 109