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Molecular Biology Reports|June 26, 2024
Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephalyKomal Aslam, Aysha Saeed, Hafiza Iqra Saeed, et al.Human Mutation|August 27, 2009
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomaliesSibel Ugur Iseri, Robert J Osborne, Martin Farrall, et al.Frontiers in Genetics|January 20, 2026
Expanding the mutational spectrum of congenital microcephaly in Pakistani familiesSundas Farooq, Maria Asif, Ansar A Abbasi, et al.Genes|October 23, 2021
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani FamilySyeda Seema Waseem, Abubakar Moawia, Birgit Budde, et al.Molecular Genetics and Genomics : MGG|December 23, 2016
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephalySalil K Sukumaran, Maria Stumpf, Sarah Salamon, et al.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 SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and AutismNatalie Young, Maria Asif, Matthew Jackson, et al.Journal of Genetics|August 13, 2025
Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani populationMuzammil Ahmad Khan, Jasmin Blatterer, Markus Kuster, et al.Journal of Pediatric Hematology/Oncology|January 20, 2012
β-Thalassemia in Pakistan: a pilot program on prenatal diagnosis in MultanShahid Mahmood Baig, Dure Sabih, Muhammad Kashif Rahim, et al.Pageof 4