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Abdussalam Azem

Showing results (71-80 of 74) with videos related to

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Brain : a Journal of Neurology|April 23, 2019
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmusAnja K Mayer, Muhammad Mahajnah, Mervyn G Thomas, et al.
Journal of Inherited Metabolic Disease|January 29, 2019
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndromeRajech Sharkia, Klaas J Wierenga, Amit Kessel, et al.
Scientific Reports|October 8, 2020
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophyMarie Anne-Catherine Neumann, Dajana Grossmann, Simone Schimpf-Linzenbold, et al.
Journal of Medical Genetics|November 5, 2024
Heterozygous de novo variants in <i>HSPD1</i> cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisationMarina Eskin-Schwartz, Shaikah Seraidy, Eyal Paz, et al.
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Showing results (71-80 of 74) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 74 results.
Brain : a Journal of Neurology|April 23, 2019
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmusAnja K Mayer, Muhammad Mahajnah, Mervyn G Thomas, et al.
Journal of Inherited Metabolic Disease|January 29, 2019
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndromeRajech Sharkia, Klaas J Wierenga, Amit Kessel, et al.
Scientific Reports|October 8, 2020
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophyMarie Anne-Catherine Neumann, Dajana Grossmann, Simone Schimpf-Linzenbold, et al.
Journal of Medical Genetics|November 5, 2024
Heterozygous de novo variants in <i>HSPD1</i> cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisationMarina Eskin-Schwartz, Shaikah Seraidy, Eyal Paz, et al.
Pageof 8