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Publications by Haiming Gao

Nonsense Suppression Induced Readthrough of a Novel PAX6 Mutation in Patient‐derived Cells of Congenital Aniridia

Molecular genetics & genomic medicine

Molecular Biology

English

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Three Novel PAX6 Mutations in Patients With Aniridia

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Three Novel Mutations of the PAX6 Gene in Japanese Aniridia Patients

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PAX6 Gene Analysis in Serbian Patients With Aniridia

Medicinski podmladak

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Inherited KIF21A and PAX6 Gene Mutations in a Boy With Congenital Fibrosis of Extraocular Muscles and Aniridia

BMC Medical Genetics

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A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency

Journal of Human Genetics

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Assessment of PAX6 Alleles in 66 Families With Aniridia

Clinical Genetics

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A Novel CACNA1A Nonsense Variant in a Patient Presenting With Paroxysmal Exertion-Induced Dyskinesia

Journal of the Neurological Sciences

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Diazoxide-Unresponsive Congenital Hyperinsulinism Associated With ABCC8 Nonsense Mutation

International Journal of Pediatric Endocrinology

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Identification of a Novel Nonsense Mutation in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1: A Case Report

BMC Medical Genetics

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