Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by O. Shi
A Novel Splicing Site Mutation of the GPR143 Gene in a Chinese X-Linked Ocular Albinism Pedigree
Genetics and Molecular Research
Medicine
Genetics
Molecular Biology
Generation of a Mouse Model for Arginase II Deficiency by Targeted Disruption of the Arginase II Gene
Molecular and Cellular Biology
Cell Biology
Molecular Biology
Related publications
A Novel Splice Site Mutation in AP1S2 Gene for X-Linked Mental Retardation in a Chinese Pedigree and Literature Review
Brain and Behavior
Behavioral Neuroscience
Deep Intronic GPR143 Mutation in a Japanese Family With Ocular Albinism
Scientific Reports
Multidisciplinary
GPR143 Mutations in Chinese Patients With Ocular Albinism Type 1
Molecular Medicine Reports
Oncology
Genetics
Molecular Biology
Biochemistry
Cancer Research
Molecular Medicine
A Novel GJB1 Mutation Associated With X‐linked Charcot–Marie–Tooth Disease in a Large Chinese Family Pedigree
Molecular genetics & genomic medicine
Genetics
Molecular Biology
GPR143 Gene Mutations in Five Chinese Families With X-Linked Congenital Nystagmus
Scientific Reports
Multidisciplinary
Identification of a Novel Compound Heterozygous Mutation of the CYP21A2 Gene Causing 21‑hydroxylase Deficiency in a Chinese Pedigree
Molecular Medicine Reports
Oncology
Genetics
Molecular Biology
Biochemistry
Cancer Research
Molecular Medicine
Multimodal Imaging in a Pedigree of X-Linked Retinoschisis With a Novel RS1 Variant
BMC Medical Genetics
Genetics
A Novel Aberrant Splice Site Mutation in the APC Gene
Journal of Medical Genetics
Genetics
Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree With Xeroderma Pigmentosum, Variant Type
International Journal of Medical Sciences
Medicine