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Publications by Koh-ichiro Yoshiura
SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice
American Journal of Human Genetics
Genetics
KAT6B-related Disorder in a Patient With a Novel Frameshift Variant (C.3925dup)
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Cystic Biliary Atresia With Paucity of Bile Ducts and Gene Mutation in KDM6A: A Case Report
Surgical Case Reports
Familial Mediterranean Fever Is No Longer a Rare Disease in Japan
Arthritis Research & Therapy
A Novel Heterozygous GLI2 Mutation in a Patient With Congenital Urethral Stricture and Renal Hypoplasia/Dysplasia Leading to End-Stage Renal Failure
CEN Case Reports
Nephrology
Domain-Specific Mutations of a Transforming Growth Factor (TGF)-β1 Latency-Associated Peptide Cause Camurati-Engelmann Disease Because of the Formation of a Constitutively Active Form of TGF-β1
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
A Japanese Patient With a Mild Lenz–Majewski Syndrome
Journal of Human Genetics
Genetics
Phenotype?genotype Correlation in Two Patients With 12q Proximal Deletion
Journal of Human Genetics
Genetics
Microarray Comparative Genomic Hybridization (CGH)-based Prenatal Diagnosis for Chromosome Abnormalities Using Cell-Free Fetal DNA in Amniotic Fluid
Journal of Human Genetics
Genetics
Isolation of 2 Novel RFLP Markers and Their Localization at 2q35 by Microdissection and Subsequent Enzymatic Amplification
Japanese journal of human genetics
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