スポンサーリンク
Department of Human Genetics Nagasaki University School of Medicine | 論文
- Identification of nonsynonymous polymorphisms in the superantigen-coding region of IDDMK_ 22 and a pilot study on the association between IDDMK_ 22 and type 1 diabetes
- Minor Physical Anomalies in Japanese Patients With Schizophrenia
- Morphogenesis and genomic imprinting : Abstracts of Papers Presented at the Thirty-Second Annual Meeting of the Japanese Teratology Society Tokyo, Japan, July 8-10, 1992
- Miller syndrome with novel dihydroorotate dehydrogenase gene mutations
- Contiguous gene syndromes : Approach to gene cloning with reverse genetics technique : Abstracts of Papers Presented at the Thirtieth Annual Meeting of the Japanese Teratology Society Miyazaki, Japan, July 12-13, 1990
- Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
- A Novel SACS Mutation in an Atypical Case with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
- Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome
- A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
- Japanese map of the earwax gene frequency : a nationwide collaborative study by Super Science High School Consortium
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
- Identification of a Novel Homozygous SPG7 Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia
- Heart Rate Variability and Hypercapnia in Duchenne Muscular Dystrophy
- Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity
- A Novel Imprinted Gene, KCNQ1DN, within the WT2 Critical Region of Human Chromosome 11p15.5 and Its Reduced Expression in Wilms' Tumors.