スポンサーリンク
Division of Clinical and Molecular Genetics, Shinshu University Hospital | 論文
- Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression
- X-linked Dilated Cardiomyopathy with a Large Hot-spot Deletion in the Dystrophin Gene
- Huntington's disease with onset ages greater than 60 years
- A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
- Long-term Follow-up of Patients with Multiple Endocrine Neoplasia Type 1
- Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1
- Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan
- Regional features of autosomal-dominant cerebellar ataxia in Nagano : clinical and molecular genetic analysis of 86 families
- Genetic Aspects of the Vascular Type of Ehlers-Danlos Syndrome (vEDS, EDSIV) in Japan
- Aceruloplasminemia with Juvenile-onset Diabetes Mellitus Caused by Exon Skipping in the Ceruloplasmin Gene
- Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis : Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies
- Cerebral hemorrhage in Fabry's disease
- Facial Angiofibroma as an Initial Manifestation in Multiple Endocrine Neoplasia Type 1