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Saima Riazuddin

Showing results (31-40 of 134) with videos related to

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The International Journal of Biochemistry & Cell Biology|February 3, 2019
RETRACTED: PP2ACα deficiency impairs early cortical development through inducing DNA damage in neuroprojenitor cellsBo Liu, Lin Lin, Saima Riazuddin, et al.
Disease Models & Mechanisms|March 14, 2025
CIB2 function is distinct from that of whirlin in the organization of sterocilia architectureArnaud P J Giese, Andrew Parker, Sakina Rehman, et al.
The Journal of Clinical Investigation|February 7, 2018
Modifier variant of METTL13 suppresses human GAB1-associated profound deafnessRizwan Yousaf, Zubair M Ahmed, Arnaud Pj Giese, et al.
Ophthalmology|December 3, 2014
Phenotypic variability associated with the D226N allele of IMPDH1Shahbaz Ali, Shahid Y Khan, Muhammad Asif Naeem, et al.
European Journal of Human Genetics : EJHG|July 24, 2014
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophyRehan S Shaikh, Peggy Reuter, Robert A Sisk, et al.
Plos Genetics|September 17, 2013
An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humansThomas J Jaworek, Elodie M Richard, Anna A Ivanova, et al.
Genes|May 25, 2024
A Missense Variant in <i>HACE1</i> Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani KindredMuhammad A Usmani, Amama Ghaffar, Mohsin Shahzad, et al.
Genes|April 23, 2022
Delineating the Molecular and Phenotypic Spectrum of the <i>CNGA3</i>-Related Cone Photoreceptor Disorder in Pakistani FamiliesSairah Yousaf, Nabeela Tariq, Zureesha Sajid, et al.
Pigment Cell & Melanoma Research|November 18, 2015
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani populationSairah Yousaf, Mohsin Shahzad, Tasleem Kausar, et al.
Journal of Human Genetics|December 14, 2012
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani populationZil-e-Huma Bashir, Noreen Latief, Inna A Belyantseva, et al.
Pageof 14

Showing results (31-40 of 134) with videos related to

Sort By:
Pageof 14
The International Journal of Biochemistry & Cell Biology|February 3, 2019
RETRACTED: PP2ACα deficiency impairs early cortical development through inducing DNA damage in neuroprojenitor cellsBo Liu, Lin Lin, Saima Riazuddin, et al.
Disease Models & Mechanisms|March 14, 2025
CIB2 function is distinct from that of whirlin in the organization of sterocilia architectureArnaud P J Giese, Andrew Parker, Sakina Rehman, et al.
The Journal of Clinical Investigation|February 7, 2018
Modifier variant of METTL13 suppresses human GAB1-associated profound deafnessRizwan Yousaf, Zubair M Ahmed, Arnaud Pj Giese, et al.
Ophthalmology|December 3, 2014
Phenotypic variability associated with the D226N allele of IMPDH1Shahbaz Ali, Shahid Y Khan, Muhammad Asif Naeem, et al.
European Journal of Human Genetics : EJHG|July 24, 2014
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophyRehan S Shaikh, Peggy Reuter, Robert A Sisk, et al.
Plos Genetics|September 17, 2013
An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humansThomas J Jaworek, Elodie M Richard, Anna A Ivanova, et al.
Genes|May 25, 2024
A Missense Variant in <i>HACE1</i> Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani KindredMuhammad A Usmani, Amama Ghaffar, Mohsin Shahzad, et al.
Genes|April 23, 2022
Delineating the Molecular and Phenotypic Spectrum of the <i>CNGA3</i>-Related Cone Photoreceptor Disorder in Pakistani FamiliesSairah Yousaf, Nabeela Tariq, Zureesha Sajid, et al.
Pigment Cell & Melanoma Research|November 18, 2015
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani populationSairah Yousaf, Mohsin Shahzad, Tasleem Kausar, et al.
Journal of Human Genetics|December 14, 2012
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani populationZil-e-Huma Bashir, Noreen Latief, Inna A Belyantseva, et al.
Pageof 14