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Publications by Sameer Abdi

LMX1B Gene Mutation in a Saudi Patient With Bilateral Symmetrical Hypoplastic Nails of the Upper Limbs

Journal of Genetic Syndromes & Gene Therapy

English

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EP13.05: Upper Limbs Malformation and Mutation in RECQL4 Gene First Trimester Prenatal Diagnosis

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

Identification of a Novel MEN1 Gene Mutation in Saudi Arabian Patient With Multiple Endocrine Tumors

Endocrinology&Metabolism International Journal

English

Brachydactyly With Absence of Middle Phalanges and Hypoplastic Nails

The Journal of Bone and Joint Surgery. British volume

English

A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

Molecular Biology

English

Bilateral Thalamic Infarction in a Patient With Factor v Leiden Mutation

Mayo Clinic Proceedings

English

A Novel POLG Gene Mutation in a Patient With SANDO

Journal of Experimental and Integrative Medicine

Alternative Medicine

English

Synchronous Bilateral Breast Carcinoma in a Patient With Cowden Syndrome With PTEN Mutation: A Case Report

Journal of Breast Disease

English

Homozygous R396H Mutation of the RAG1 Gene in a Saudi Infant With Omenn's Syndrome: A Case Report

English

Hypogonadism in a Patient With a Mutation in the Luteinizing Hormone Beta-Subunit Gene

New England Journal of Medicine

English