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Maria Asif

Showing results (11-20 of 20) with videos related to

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Genes|January 21, 2023
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual DisabilityMaria Asif, Maryam Anayat, Faiza Tariq, et al.
Journal of Translational Medicine|June 21, 2019
Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profilingThomas M Kinfe, Maria Asif, Krishnan V Chakravarthy, et al.
Genes|September 28, 2021
Biallelic <i>SYNE2</i> Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and AutismNatalie Young, Maria Asif, Matthew Jackson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaMaria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signalingWilliam Dufour, Salem Alawbathani, Anne-Sophie Jourdain, et al.
Genes|June 2, 2021
Modifier Genes in Microcephaly: A Report on <i>WDR62</i>, <i>CEP63</i>, <i>RAD50</i> and <i>PCNT</i> Variants Exacerbating Disease Caused by Biallelic Mutations of <i>ASPM</i> and <i>CENPJ</i>Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, et al.
Molecular Genetics & Genomic Medicine|July 18, 2020
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from PakistanSajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, et al.
Clinical Genetics|July 16, 2021
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndromeEmrah Kaygusuz, Arwa Ishaq A Khayyat, Uzma Abdullah, et al.
HGG Advances|May 16, 2022
<i>De novo</i> variants of <i>CSNK2B</i> cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayMaria Asif, Emrah Kaygusuz, Marwan Shinawi, et al.
The Journal of Clinical Investigation|September 5, 2018
Mutations in multiple components of the nuclear pore complex cause nephrotic syndromeDaniela A Braun, Svjetlana Lovric, David Schapiro, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Genes|January 21, 2023
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual DisabilityMaria Asif, Maryam Anayat, Faiza Tariq, et al.
Journal of Translational Medicine|June 21, 2019
Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profilingThomas M Kinfe, Maria Asif, Krishnan V Chakravarthy, et al.
Genes|September 28, 2021
Biallelic <i>SYNE2</i> Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and AutismNatalie Young, Maria Asif, Matthew Jackson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaMaria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signalingWilliam Dufour, Salem Alawbathani, Anne-Sophie Jourdain, et al.
Genes|June 2, 2021
Modifier Genes in Microcephaly: A Report on <i>WDR62</i>, <i>CEP63</i>, <i>RAD50</i> and <i>PCNT</i> Variants Exacerbating Disease Caused by Biallelic Mutations of <i>ASPM</i> and <i>CENPJ</i>Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, et al.
Molecular Genetics & Genomic Medicine|July 18, 2020
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from PakistanSajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, et al.
Clinical Genetics|July 16, 2021
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndromeEmrah Kaygusuz, Arwa Ishaq A Khayyat, Uzma Abdullah, et al.
HGG Advances|May 16, 2022
<i>De novo</i> variants of <i>CSNK2B</i> cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayMaria Asif, Emrah Kaygusuz, Marwan Shinawi, et al.
The Journal of Clinical Investigation|September 5, 2018
Mutations in multiple components of the nuclear pore complex cause nephrotic syndromeDaniela A Braun, Svjetlana Lovric, David Schapiro, et al.
Pageof 2