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Publications by Yo Jun Choi
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy
American Journal of Human Genetics
Genetics
Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation
Biomolecules
Biochemistry
Molecular Biology
Related publications
Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
American Journal of Human Genetics
Genetics
Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype With ESRD
Journal of the American Society of Nephrology : JASN
Medicine
Nephrology
Mutations of IFT81, Encoding an IFT-B Core Protein, as a Rare Cause of a Ciliopathy
Cilia
Cell Biology
Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
American Journal of Human Genetics
Genetics
Nephronophthisis
European Journal of Human Genetics
Genetics
Nephronophthisis
Pediatric Nephrology
Child Health
Pediatrics
Perinatology
Nephrology
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by Mutations in the IFT140 Gene
Cilia
Cell Biology
ACTN1 Mutations Cause Congenital Macrothrombocytopenia
American Journal of Human Genetics
Genetics
LRIG2 Mutations Cause Urofacial Syndrome
American Journal of Human Genetics
Genetics
