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Publications by Sadaf Noavar

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

BMC Medical Genetics

English

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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

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A Case of Perinatal Hypophosphatasia With a Novel Mutation in the ALPL Gene: Clinical Course and Review of the Literature

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

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Homozygous 15q13.3 Microdeletion in a Child With Hypotonia and Impaired Vision: A New Report and Review of the Literature

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A Rare Malignant Thyroid Carcinosarcoma With Aggressive Behavior and DICER1 Gene Mutation: A Case Report With Literature Review

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A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report

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

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Three Secondary Malignant Neoplasms in a Childhood Cancer Survivor Positive for Nibrin Gene Mutation – A Case Report and Literature Review

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ADA2 Deficiency: Case Report of a New Phenotype and Novel Mutation in Two Sisters

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