Fukushima Y | Department Of Preventive Medicine Shinshu University School Of Medicine

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概要

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著作論文

The IHPK1 gene is disrupted at the 3p21. 31 breakpoint of t(3 ; 9) in a family with type 2 diabetes mellitus
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
Guidelines for genetic testing
Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
Huntington's disease with onset ages greater than 60 years
Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization
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
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
ATTENTION CHARACTERISTICS OF PEAK AMPLITUDE IN THE HYOGOKEN-NAMBU EARTHQUAKE
Cerebral hemorrhage in Fabry's disease

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