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Publications by Mays Altaraihi

A New Family With a Homozygous Nonsense Variant in NTHL1 Further Delineated the Clinical Phenotype of NTHL1-associated Polyposis

Human Genome Variation

Molecular Biology

English

Related publications

NTHL1 and MUTYH Polyposis Syndromes: Two Sides of the Same Coin?

Journal of Pathology

Forensic Medicine

English

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-Tumor Phenotype

Cancer Research

English

SAT0597 New Autoinflammatory Phenotype Manifesting as Hypocomplementemic Urticarial Vasculitis and Associated With Homozygous Agbl3 Variant

English

Correction: A Homozygous KAT2B Variant Modulates the Clinical Phenotype of ADD3 Deficiency in Humans and Flies

Molecular Biology

Cancer Research

English

4H Leukodystrophy Caused by a Homozygous POLR3B Mutation: Further Delineation of the Phenotype

American Journal of Medical Genetics, Part A

English

Identification of an APC Variant in a Patient With Clinical Attenuated Familial Adenomatous Polyposis

Case Reports in Medicine

English

African American Patients With Chronic Rhinosinusitis Have a Distinct Phenotype of Polyposis Associated With Increased Asthma Hospitalization

Journal of Allergy and Clinical Immunology: In Practice

English

New Ocular Phenotype Associated With a Mutation in the PAX2 Gene

Sensory Systems

English

Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Clinical Case Reports

English