スポンサーリンク
Department of Medical Genetics, Shinshu University School of Medicine | 論文
- 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
- Clinical features of insulinoma in patients with multiple endocrine neoplasia type 1 : analysis of the database of the MEN Consortium of Japan