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Publications by Ibrahim Al Abdulkareem

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

English

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Thrombocytosis in an Infant With a TRPV4 Mutation: A Case Report

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A Novel Homozygous Frame-Shift Mutation in the SLC29A3 Gene: A New Case Report and Review of Literature

BMC Medical Genetics

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A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics

Molecular Medicine

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Hyaline Fibromatosis Syndrome With Mutation C.1074delT of the CMG2 Gene: A Case Report

Journal of Medical Case Reports

English

Neurodevelopmental Stimulation of a Child With a Noonan Syndrome With a Non-Frequent Mutation in RAF1 Gene — Case Report

The Journal of Neurological and Neurosurgical Nursing

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BCS1L Gene Mutation Causing GRACILE Syndrome: Case Report

Intensive Care Medicine

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A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome

Frontiers in Medicine

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1034 a Hypotonic Infant With Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency; Homozygous Mutation of C.1015T>G in MTFHR Gene

Archives of Disease in Childhood

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A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature

Frontiers in Immunology

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