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Publications by Mireguli Maimaiti

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

Frontiers in Medicine

English

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Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia

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Late Diagnosis of a Truncating WISP3 Mutation Results in a Severe Phenotype of Progressive Pseudorheumatoid Dysplasia.

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A Novel POLG Gene Mutation in a Patient With SANDO

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Identification of a Novel Frameshift Mutation in PITX2 Gene in a Chinese Family With Axenfeld-Rieger Syndrome

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Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient

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

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