FUKUSHIMA Yoshimitsu | Department of Medical Genetics, Shinshu University School of Medicine

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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
Molecular characterization of a novel translocation t(5 ; 14)(q21 ; q32) in a patient with congenital abnormalities
A genomewide linkage analysis of Kawasaki disease : evidence for linkage to chromosome 12
OJ-256 Incremental Diagnostic Value of Fusion Imaging from Stress Myocardial Scintigraphy and Coronary Multi-slice CT(OJ43,Nuclear Cardiology (Coronary, Myocardium) (I),Oral Presentation (Japanese),The 73rd Annual Scientific Meeting of The Japanese Circul
Usefulness of ^TlCl/^I-BMIPP dual-myocardial SPECT for patients with non-ST segment elevation myocardial infarction
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
A novel splicing mutation of the ATRX gene in ATR-X syndrome
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
Serial assessment of left ventricular performance at rest and during bicycle exercise by ECG-gated myocardial perfusion SPECT
Unusual Clinical and Pathological Presentation of a Neuroendocrine Tumor in a Patient with Multiple Endocrine Neoplasia Type 1
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
Assessment of contractile response to dobutamine stress by means of ECG-gated myocardial SPECT : Comparison with myocardial perfusion and fatty acid metabolism
Assessment of left ventricular function using solid-state gamma camera equipped with a highly-sensitive collimator
Assessment of myocardial washout of Tc-99m-sestamibi in patients with chronic heart failure : Comparison with normal control
Long-term Follow-up of Patients with Multiple Endocrine Neoplasia Type 1
Validation of fast-RAMLA in clinical PET
Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB
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
Sequelae of Sarin Toxicity at One and Three Years After Exposure in Matsumoto, Japan
Progressive Scoliosis in Cri-Du-Chat Syndrome Over a 20-Year Follow-Up Period : A Case Report
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

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