スポンサーリンク
Department Of Medical Genetics Shinshu University School Of Medicine | 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
- Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome
- Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression
- Autosomal dominant leukoencephalopathy with mild clinical symptoms due to cerebrovascular dysfunctions : A new disease entity?
- A novel splicing mutation of the ATRX gene in ATR-X syndrome
- A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)
- Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy
- Experimental Assessment of the Performance of an Electromagnetic Hearing Aid in Human Temporal Bones(Bioengineering)
- Effects of Individual Differences in Size and Mobility of the Middle Ear on Hearing(Bioengineering)
- High-Speed Video Observation of Tympanic Membrane Rupture in Guinea Pigs(Bioengineering)
- Unusual Clinical and Pathological Presentation of a Neuroendocrine Tumor in a Patient with Multiple Endocrine Neoplasia Type 1
- Effect of Depth of Conical-Shaped Tympanic Membrane on Middle-Ear Sound Transmission
- Measurement of Dynamic Frequency Characteristics of Guinea Pig Middle Ear by a Laser Doppler Velocimeter
- Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan
- Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
- THE EFFECT OF STIFFNESS OF THE ROUND WINDOW MEMBRANE OF THE INNER EAR ON AUDITORY ACTIVITY(2E1 Joints & Sensory Organs)
- 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
- Comprehensive genetics clinic for familial tumors : proposal for a suitable system in Japan
- New mutation of CACNA1A gene in episodic ataxia type 2