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Safdar Abbas

Showing results (51-60 of 57) with videos related to

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Frontiers in Genetics|May 16, 2022
Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual DisabilityAhmed Waqas, Anam Nayab, Shabnam Shaheen, et al.
European Journal of Medical Genetics|May 16, 2020
Biallelic variants in four genes underlying recessive osteogenesis imperfectaAmir Hayat, Shabir Hussain, Muhammad Bilal, et al.
Clinical Genetics|June 4, 2023
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codonsLukas Kaufmann, Johannes Pilic, Lisa Auinger, et al.
Biomed Research International|December 16, 2021
Hepatoprotective Screening of <i>Seriphidium kurramense</i> (Qazilb.) Y.R. LingMaroof Ali, Hidayat Hussain, Amjad Hussain, et al.
Frontiers in Medicine|September 16, 2024
The genetic cause of neurodevelopmental disorders in 30 consanguineous familiesSohail Aziz Paracha, Shoaib Nawaz, Muhammad Tahir Sarwar, et al.
Molecular Autism|October 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizuresBeryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, et al.
Acta Neuropathologica|April 29, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical modelRuizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, et al.
Pageof 6

Showing results (51-60 of 57) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 57 results.
Frontiers in Genetics|May 16, 2022
Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual DisabilityAhmed Waqas, Anam Nayab, Shabnam Shaheen, et al.
European Journal of Medical Genetics|May 16, 2020
Biallelic variants in four genes underlying recessive osteogenesis imperfectaAmir Hayat, Shabir Hussain, Muhammad Bilal, et al.
Clinical Genetics|June 4, 2023
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codonsLukas Kaufmann, Johannes Pilic, Lisa Auinger, et al.
Biomed Research International|December 16, 2021
Hepatoprotective Screening of <i>Seriphidium kurramense</i> (Qazilb.) Y.R. LingMaroof Ali, Hidayat Hussain, Amjad Hussain, et al.
Frontiers in Medicine|September 16, 2024
The genetic cause of neurodevelopmental disorders in 30 consanguineous familiesSohail Aziz Paracha, Shoaib Nawaz, Muhammad Tahir Sarwar, et al.
Molecular Autism|October 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizuresBeryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, et al.
Acta Neuropathologica|April 29, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical modelRuizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, et al.
Pageof 6