Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Shiro Ikegawa
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
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
SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice
American Journal of Human Genetics
Genetics
Characterizing Rare and Low-Frequency Height-Associated Variants in the Japanese Population
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Ectopic Expression of Ptf1a Induces Spinal Defects, Urogenital Defects, and Anorectal Malformations in Danforth's Short Tail Mice
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Identification of biallelicLRRK1mutations in Osteosclerotic Metaphyseal Dysplasia and Evidence for Locus Heterogeneity
Journal of Medical Genetics
Genetics
Cover Image, Volume 38, Issue 3
Human Mutation
Genetics
A Founder Mutation of CANT1 Common in Korean and Japanese Desbuquois Dysplasia
Journal of Human Genetics
Genetics
Association Study of Polymorphisms Rs4552569 and Rs17095830 and the Risk of Ankylosing Spondylitis in a Taiwanese Population
PLoS ONE
Multidisciplinary
CANT1 Deficiency in a Mouse Model of Desbuquois Dysplasia Impairs Glycosaminoglycan Synthesis and Chondrocyte Differentiation in Growth Plate Cartilage
FEBS Open Bio
Biochemistry
Genetics
Molecular Biology
1
2
›
