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Human Molecular Genetics
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July 1, 2005
Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations
P J Pollard, J J Brière, N A Alam, et al.
American Journal of Human Genetics
|
May 22, 2021
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
Holger Hengel, Shabab B Hannan, Sarah Dyack, et al.
Nature Communications
|
May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy
Micol Falabella, Sandra Lopez Calcerrada, Jana Aref, et al.
Annals of Clinical and Translational Neurology
|
October 18, 2022
Phenotypic continuum of NFU1-related disorders
Rauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, et al.
Brain : a Journal of Neurology
|
July 30, 2023
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, et al.
Page
of 23
Search research articles
Search
Showing results (221-230 of 225) with videos related to
Sort By:
Page
of 23
You have reached the last page of results.
This site can display upto 225 results.
Human Molecular Genetics
|
July 1, 2005
Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations
P J Pollard, J J Brière, N A Alam, et al.
American Journal of Human Genetics
|
May 22, 2021
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
Holger Hengel, Shabab B Hannan, Sarah Dyack, et al.
Nature Communications
|
May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy
Micol Falabella, Sandra Lopez Calcerrada, Jana Aref, et al.
Annals of Clinical and Translational Neurology
|
October 18, 2022
Phenotypic continuum of NFU1-related disorders
Rauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, et al.
Brain : a Journal of Neurology
|
July 30, 2023
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, et al.
Page
of 23