Praseetha Kizhakkedath

Al Ain, AZ, United Arab Emirates

Last Updated: 09/26/2026

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Found 18 publications

Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase.

Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase.

Journal: International journal of molecular sciences

Published: March 13, 2025

Identification and functional characterisation of a novel DNASE1L3 variant (c.572A>G, p.Asn191Ser) in three Emirati families with systemic lupus erythematosus and hypocomplementaemic urticarial vasculitis.

Identification and functional characterisation of a novel DNASE1L3 variant (c.572A>G, p.Asn191Ser) in three Emirati families with systemic lupus erythematosus and hypocomplementaemic urticarial vasculitis.

Journal: Lupus science & medicine

Published: December 13, 2024

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Journal: Frontiers in molecular biosciences

Published: June 21, 2024

AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes.

AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes.

Journal: Human genomics

Published: March 18, 2024

Spectrum of genetic variants in bilateral sensorineural hearing loss.

Spectrum of genetic variants in bilateral sensorineural hearing loss.

Journal: Frontiers in genetics

Published: October 10, 2023

Ajay Kumar Parida (1963-2022), an eminent plant biotechnologist with a passion for mangrove biology.

Ajay Kumar Parida (1963-2022), an eminent plant biotechnologist with a passion for mangrove biology.

Journal: Physiology and molecular biology of plants : an international journal of functional plant biology

Published: May 30, 2023

Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum.

Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum.

Journal: Frontiers in genetics

Published: May 09, 2023

Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.

Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.

Journal: Frontiers in pediatrics

Published: March 10, 2023

Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways.

Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways.

Journal: Frontiers in molecular biosciences

Published: December 06, 2021

Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Journal: Frontiers in genetics

Published: June 07, 2020

Utility of clinical exome sequencing in a complex Emirati pediatric cohort.

Utility of clinical exome sequencing in a complex Emirati pediatric cohort.

Journal: Computational and structural biotechnology journal

Published: March 12, 2020

Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia.

Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia.

Journal: FEBS open bio

Published: May 12, 2019

Showing 1-12 of 18

Last Updated: 09/26/2026