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Ali Amar

6PUBLICATIONS
30CO-AUTHORS
GenomicsEpigenetics (incl. genome methylation and epigenomics)HaematologyCancer geneticsNeurology and neuromuscular diseases
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Journal

Publications (6)

Sort by Publication Date:
|Jul 03, 2026
Novel/Recurrent Variants in Pakistani Glanzmann Thrombasthenia and Glanzmann-like bleeding diathesis: Insights from NGS Analysis.

|Oct 31, 2024
Genetic Signatures: <i>CD44</i> Single-Nucleotide Polymorphisms Affect Cell Surface Expression and Elevate Risk in Head and Neck Squamous Cell Carcinoma.

Muhammad Kashif, Shah Jahan, Sadia Minhas

|Jun 24, 2022
Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease.

Muhammad Asif Naveed, Aiysha Abid, Nadir Ali

|Mar 25, 2022
Delineating Novel and Known Pathogenic Variants in <i>TYR</i>, <i>OCA2</i> and <i>HPS-1</i> Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Muhammad Shakil, Abida Akbar, Nazish Mahmood Aisha

|Feb 01, 2021
Recessive <i>NOS1AP</i> variants impair actin remodeling and cause glomerulopathy in humans and mice.

Amar J Majmundar, Florian Buerger, Thomas A Forbes

|Jun 20, 2020
Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.

Tooba Ali, Saira Gul, Ali Amar

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Frequent Collaborators

1 joint publications

Amar J Majmundar

1 joint publications

Florian Buerger

1 joint publications

Thomas A Forbes

1 joint publications

Ronen Schneider

1 joint publications

Konstantin Deutsch

1 joint publications

Eugen Widmeier

1 joint publications

Ihsan Ullah

1 joint publications

Amy Kolb

1 joint publications

Daanya Salmanullah

1 joint publications

Caroline M Kolvenbach

Frequent Collaborators

1 joint publications

Amar J Majmundar

1 joint publications

Florian Buerger

1 joint publications

Thomas A Forbes

1 joint publications

Ronen Schneider