Talia Akram
Uppsala, C, Sweden
Last Updated: 09/26/2026
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Found 8 publications
Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay.
Journal: Molecular genetics & genomic medicine
Published: March 16, 2023
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Journal: American journal of human genetics
Published: March 04, 2022
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Journal: American journal of human genetics
Published: November 26, 2020
Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9.
Journal: Stem cell research
Published: February 10, 2020
Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.
Journal: International journal of hematology
Published: January 16, 2020
Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9.
Journal: Stem cell research
Published: January 13, 2020
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Journal: Annals of neurology
Published: May 09, 2017
Showing 1-8 of 8
Last Updated: 09/26/2026