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Publications by Hae Ryung Chang
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
American Journal of Human Genetics
Genetics
Systematic Approach Identifies RHOA as a Potential Biomarker Therapeutic Target for Asian Gastric Cancer
Oncotarget
Oncology
Related publications
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Hypomorphic Mutations Identified in the Candidate Leber Congenital Amaurosis Gene CLUAP1
Genetics in Medicine
Medicine
Genetics
SLC10A7 Mutations Cause a Skeletal Dysplasia With Amelogenesis Imperfecta Mediated by GAG Biosynthesis Defects
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Vasculitis as a Major Morbidity Factor in Patients With Hypomorphic RAG Mutations
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Mutations in SOX2 Cause Anophthalmia
Nature Genetics
Genetics
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
American Journal of Human Genetics
Genetics
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
American Journal of Human Genetics
Genetics
Multiple Epiphyseal Dysplasia Mutations inMATN3 Cause Misfolding of the A-Domain and Prevent Secretion of Mutant Matrilin-3
Human Mutation
Genetics
ACTN1 Mutations Cause Congenital Macrothrombocytopenia
American Journal of Human Genetics
Genetics
