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Publications by Huimin Ran

Combination of Acid Β-Glucosidase Mutation and Saposin C Deficiency in Mice Reveals Gba1 Mutation Dependent and Tissue-Specific Disease Phenotype

Scientific Reports

Multidisciplinary

English

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Mutation of Β-Glucosidase 2 Causes Glycolipid Storage Disease and Impaired Male Fertility

Journal of Clinical Investigation

English

Mutation- And Tissue-Specific Alterations ofRPGRTranscripts

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

LMNA E82K Mutation Activates FAS and Mitochondrial Pathways of Apoptosis in Heart Tissue Specific Transgenic Mice

Multidisciplinary

English

Tissue-Specific Splicing Mutation in Acute Intermittent Porphyria.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

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

English

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1−/− Mice

American Journal of Human Genetics

English

PD-1 Deficiency Reveals Various Tissue-Specific Autoimmunity by H-2b and Dose-Dependent Requirement of H-2g7 for Diabetes in NOD Mice

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Phenotype and Prognosis of the Lamin a/C Gene (LMNA) Mutation Carriers in Japan

Circulation Journal

Cardiovascular Medicine

English

TheFBN2gene: New Mutations, Locus-Specific Database (Universal Mutation DatabaseFBN2), and Genotype-Phenotype Correlations

English