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Sher Alam

Showing results (21-30 of 32) with videos related to

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The Journal of Gene Medicine|September 18, 2023
Molecular insight into CREBBP and TANGO2 variants causing intellectual disabilitySyeda Iqra Hussain, Nazif Muhammad, Niamatullah Khan, et al.
Genes|December 23, 2022
The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (<i>ARMC3</i>)Adil U Rehman, Malaika Hamid, Sher Alam Khan, et al.
Diagnostics (Basel, Switzerland)|July 27, 2022
Detection of Novel Biallelic Causative Variants in <i>COL7A1</i> Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated FamiliesFozia Fozia, Rubina Nazli, May Mohammed Alrashed, et al.
JPMA. the Journal of the Pakistan Medical Association|January 19, 2020
Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun familiesSaadullah Khan, Anwar Kamal Khan, Malaika Hamid, et al.
Biochemical Genetics|March 20, 2025
Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani FamiliesSadaqat Ullah, Sher Alam Khan, Samin Jan, et al.
Genes|April 3, 2021
Novel Homozygous Mutations in the Genes <i>TGM1</i>, <i>SULT2B1</i>, <i>SPINK5</i> and <i>FLG</i> in Four Families Underlying Congenital IchthyosisFozia Fozia, Rubina Nazli, Sher Alam Khan, et al.
Frontiers in Neurology|June 12, 2023
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanismsNazif Muhammad, Syeda Iqra Hussain, Zia Ur Rehman, et al.
Molecular Vision|August 2, 2017
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous familiesAsmat Ullah, Muhammad Umair, Maryam Yousaf, et al.
BMC Neurology|October 4, 2023
Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disabilitySyeda Iqra Hussain, Nazif Muhammad, Salah Ud Din Shah, et al.
Genes|May 27, 2023
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl SyndromeHamed Nawaz, Mujahid, Sher Alam Khan, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
The Journal of Gene Medicine|September 18, 2023
Molecular insight into CREBBP and TANGO2 variants causing intellectual disabilitySyeda Iqra Hussain, Nazif Muhammad, Niamatullah Khan, et al.
Genes|December 23, 2022
The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (<i>ARMC3</i>)Adil U Rehman, Malaika Hamid, Sher Alam Khan, et al.
Diagnostics (Basel, Switzerland)|July 27, 2022
Detection of Novel Biallelic Causative Variants in <i>COL7A1</i> Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated FamiliesFozia Fozia, Rubina Nazli, May Mohammed Alrashed, et al.
JPMA. the Journal of the Pakistan Medical Association|January 19, 2020
Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun familiesSaadullah Khan, Anwar Kamal Khan, Malaika Hamid, et al.
Biochemical Genetics|March 20, 2025
Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani FamiliesSadaqat Ullah, Sher Alam Khan, Samin Jan, et al.
Genes|April 3, 2021
Novel Homozygous Mutations in the Genes <i>TGM1</i>, <i>SULT2B1</i>, <i>SPINK5</i> and <i>FLG</i> in Four Families Underlying Congenital IchthyosisFozia Fozia, Rubina Nazli, Sher Alam Khan, et al.
Frontiers in Neurology|June 12, 2023
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanismsNazif Muhammad, Syeda Iqra Hussain, Zia Ur Rehman, et al.
Molecular Vision|August 2, 2017
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous familiesAsmat Ullah, Muhammad Umair, Maryam Yousaf, et al.
BMC Neurology|October 4, 2023
Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disabilitySyeda Iqra Hussain, Nazif Muhammad, Salah Ud Din Shah, et al.
Genes|May 27, 2023
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl SyndromeHamed Nawaz, Mujahid, Sher Alam Khan, et al.
Pageof 4