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Publications by Gen Nishimura
Gain-Of-Function Mutation of microRNA-140 in Human Skeletal Dysplasia
Nature Medicine
Biochemistry
Medicine
Genetics
Molecular Biology
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
American Journal of Human Genetics
Genetics
Identification of biallelicLRRK1mutations in Osteosclerotic Metaphyseal Dysplasia and Evidence for Locus Heterogeneity
Journal of Medical Genetics
Genetics
A Novel Phenotype in N-Glycosylation Disorders: Gillessen-Kaesbach–Nishimura Skeletal Dysplasia Due to Pathogenic Variants in ALG9
European Journal of Human Genetics
Genetics
A Founder Mutation of CANT1 Common in Korean and Japanese Desbuquois Dysplasia
Journal of Human Genetics
Genetics
New PCNT Candidate Missense Variant in a Patient With Oral and Maxillofacial Osteodysplasia: A Case Report
BMC Medical Genetics
Genetics
Novel CUL7 Biallelic Mutations Alter the Skeletal Phenotype of 3M Syndrome
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Mutation of the Type X Collagen Gene (COL10A1) Causes Spondylometaphyseal Dysplasia
American Journal of Human Genetics
Genetics
Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia
American Journal of Human Genetics
Genetics
A Japanese Patient With a Mild Lenz–Majewski Syndrome
Journal of Human Genetics
Genetics
