FUKUSHIMA Yoshimitsu | Division of Clinical and Molecular Genetics, Shinshu University Hospital

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著作論文

Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression
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
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

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