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Publications by Tarek Bou-Assi

First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria

Multidisciplinary

English

Related publications

Molecular Docking Analysis of Nitisinone With Homogentisate 1,2 Dioxygenase

English

Steady-State Kinetics and Inhibition of Anaerobically Purified Human Homogentisate 1,2-Dioxygenase

Biochemical Journal

Molecular Biology

English

Deletion of Entire LMNA Gene as a Cause of Cardiomyopathy

HeartRhythm Case Reports

Cardiovascular Medicine

English

Exon 12 Ceruloplasmin Gene New Nonsense Mutation Causing Aceruloplasminemia in an Italian Patient

Open Journal of Internal Medicine

English

Whole‐genome Sequencing Revealed an Interstitial Deletion Encompassing OCRL and SMARCA1 Gene in a Patient With Lowe Syndrome

Molecular genetics & genomic medicine

Molecular Biology

English

An Exon 10 Deletion in the Mouse Ferrochelatase Gene Has a Dominant-Negative Effect and Causes Mild Protoporphyria

English

Alkaptonuria - Case Report

Anais Brasileiros de Dermatologia

English

CRISPR/Cas9-mediated Editing of GABRR2 Gene in RGC-5 Cells Induces Random Exon Deletion, Exon Splicing and New Exon Recruitment

Biochemical Engineering Journal

Environmental Engineering

Biomedical Engineering

English

Chaetomium Atrobrunneum Causing Human Eumycetoma: The First Report

PLoS Neglected Tropical Diseases

Infectious Diseases

Occupational Health

English